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Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

AlphaMissense (IC) AlphaMissense (N2AB)
CADD Condel DUET FATHMM M-CAP
mCSM MetaLR MetaSVM MPC MutationAssessor
MutationTaster MutPred MVP PolyPhen-2
PrimateAI PROVEAN REVEL Rhapsody SIFT

Disease Associations

Disease Zygosity Comments

Population Frequencies

Whole Population MAF African (AFR) Latin American (AMR)
Amish (AMS) Ashkenazi Jewish (ASJ) East Asian (EAS)
European/1KGP (EUR) Finnish (FIN) Middle Eastern (MDE)
Non-Finnish European (NFE) South Asian (SAS) Other (OTH)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80 90
R P G P P E G P V V I S G V T A E K C T L A W K P P L Q D G G S D I I N Y I V E R R E T S R L V W T V V D A N V Q T L S C K V T K L L E G N E Y T F R I M A V N K Y G V G E P L E S E P V V A K N P F V V P D A P K A P E V T T V T K D S M I V V W E R P A S D G G S E I L G Y V L E K R D K E G I R W T R C H K R L I G E L R L R V T G L I E N H D Y E F R V S A E N A A G L S E P S P P S A Y Q K A C D P
R P G P P E G P V V I S G V T A E K C T L A W K P P L Q D G G S D I I N Y I V E R R E T S R L V W T V V D A N V Q T L S C K V T K L L E G N E Y T F R I M A V N K Y G V G E P L E S E P V V A K N - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
25204 1 R/G 1 None 0.6291 None gnomAD-4.0.0 1.20032E-06
25204 1 R/K 1 rs1420513249 0.6291 None gnomAD-2.1.1 4.04E-06
25204 1 R/S 1 rs1707795388 0.6291 None gnomAD-3.1.2 6.57E-06
25204 1 R/S 1 rs1707795388 0.6291 None gnomAD-4.0.0 6.57358E-06
25205 2 P/L 2 rs1324051113 0.1733 None gnomAD-2.1.1 3.19E-05
25205 2 P/L 2 rs1324051113 0.1733 None gnomAD-3.1.2 6.58E-06
25205 2 P/L 2 rs1324051113 0.1733 None gnomAD-4.0.0 6.81925E-06
25206 3 G/R 3 rs373781969 0.2364 None gnomAD-2.1.1 1.61E-05
25206 3 G/R 3 rs373781969 0.2364 None gnomAD-4.0.0 1.11467E-05
25207 4 P/R 4 rs72646900 0.3651 None gnomAD-2.1.1 1.79E-05
25207 4 P/R 4 rs72646900 0.3651 None gnomAD-3.1.2 1.97E-05
25207 4 P/R 4 rs72646900 0.3651 None gnomAD-4.0.0 2.16963E-05
25208 5 P/H 5 rs549335677 0.1423 None gnomAD-2.1.1 4.04E-06
25208 5 P/H 5 rs549335677 0.1423 None gnomAD-3.1.2 6.58E-06
25208 5 P/H 5 rs549335677 0.1423 None 1000 genomes 1.99681E-04
25208 5 P/H 5 rs549335677 0.1423 None gnomAD-4.0.0 6.5722E-06
25208 5 P/R 5 None 0.1423 None gnomAD-4.0.0 1.59238E-06
25208 5 P/T 5 rs1484393725 0.1423 None gnomAD-4.0.0 1.59235E-06
25209 6 E/K 6 rs773767237 0.3663 None gnomAD-2.1.1 1.21E-05
25209 6 E/K 6 rs773767237 0.3663 None gnomAD-3.1.2 1.32E-05
25209 6 E/K 6 rs773767237 0.3663 None gnomAD-4.0.0 1.15378E-05
25210 7 G/A 7 None 0.3938 None gnomAD-4.0.0 1.20032E-06
25211 8 P/S 8 rs770140755 0.8477 None gnomAD-2.1.1 4.04E-06
25211 8 P/S 8 rs770140755 0.8477 None gnomAD-4.0.0 1.59236E-06
25212 9 V/A 9 None 0.2294 None gnomAD-4.0.0 1.20032E-06
25212 9 V/L 9 rs1707781335 0.2294 None gnomAD-4.0.0 1.59234E-06
25213 10 V/A 11 rs1707778463 0.6047 None gnomAD-3.1.2 6.58E-06
25213 10 V/A 11 rs1707778463 0.6047 None gnomAD-4.0.0 6.57687E-06
25213 10 V/F 11 rs72646901 0.6047 None gnomAD-2.1.1 4.04E-06
25213 10 V/F 11 rs72646901 0.6047 None gnomAD-4.0.0 6.15967E-06
25213 10 V/I 11 rs72646901 0.6047 None gnomAD-3.1.2 6.58E-06
25213 10 V/I 11 rs72646901 0.6047 None gnomAD-4.0.0 1.23979E-06
25214 11 I/T 12 rs1241605082 0.3178 None gnomAD-2.1.1 4.03E-06
25214 11 I/T 12 rs1241605082 0.3178 None gnomAD-4.0.0 1.59229E-06
25216 13 G/E 14 None 0.4489 None gnomAD-4.0.0 6.84405E-07
25216 13 G/V 14 rs748480491 0.4489 None gnomAD-2.1.1 4.04E-06
25216 13 G/V 14 rs748480491 0.4489 None gnomAD-4.0.0 1.71101E-05
25217 14 V/I 15 rs1292869028 0.4149 None gnomAD-2.1.1 4.04E-06
25217 14 V/I 15 rs1292869028 0.4149 None gnomAD-4.0.0 1.59231E-06
25219 16 A/G 17 None 0.1450 None gnomAD-4.0.0 3.60097E-06
25219 16 A/P 17 rs771709515 0.1450 None gnomAD-2.1.1 1.21E-05
25219 16 A/P 17 rs771709515 0.1450 None gnomAD-4.0.0 5.47529E-06
25219 16 A/T 17 None 0.1450 None gnomAD-4.0.0 1.36882E-06
25221 18 K/R 19 rs745540831 0.4144 None gnomAD-2.1.1 3.19E-05
25221 18 K/R 19 rs745540831 0.4144 None gnomAD-3.1.2 6.58E-06
25221 18 K/R 19 rs745540831 0.4144 None gnomAD-4.0.0 2.03018E-06
25222 19 C/G 20 rs1227452982 0.1330 None gnomAD-2.1.1 4.04E-06
25222 19 C/R 20 rs1227452982 0.1330 None gnomAD-3.1.2 6.58E-06
25222 19 C/R 20 rs1227452982 0.1330 None gnomAD-4.0.0 2.47987E-06
25223 20 T/I 21 rs370070176 0.2949 None gnomAD-2.1.1 1.11074E-04
25223 20 T/I 21 rs370070176 0.2949 None gnomAD-3.1.2 4.61E-05
25223 20 T/I 21 rs370070176 0.2949 None 1000 genomes 1.99681E-04
25223 20 T/I 21 rs370070176 0.2949 None gnomAD-4.0.0 4.40112E-05
25224 21 L/I 22 None 0.1517 None gnomAD-4.0.0 6.00161E-06
25225 22 A/V 23 None 0.2184 None gnomAD-4.0.0 1.59241E-06
25228 25 P/S 26 rs377226540 0.4635 None gnomAD-2.1.1 1.0753E-04
25228 25 P/S 26 rs377226540 0.4635 None gnomAD-3.1.2 2.69691E-04
25228 25 P/S 26 rs377226540 0.4635 None 1000 genomes 5.99042E-04
25228 25 P/S 26 rs377226540 0.4635 None gnomAD-4.0.0 4.95903E-05
25229 26 P/A 27 rs749230632 0.2312 None gnomAD-2.1.1 1.21E-05
25229 26 P/A 27 rs749230632 0.2312 None gnomAD-4.0.0 4.1066E-06
25229 26 P/L 27 None 0.2312 None gnomAD-4.0.0 1.20032E-06
25229 26 P/S 27 rs749230632 0.2312 None gnomAD-4.0.0 1.36887E-06
25231 28 Q/H 29 None 0.8289 None gnomAD-4.0.0 1.59256E-06
25232 29 D/E 30 None 0.3364 None gnomAD-4.0.0 6.84436E-07
25232 29 D/N 30 rs912960791 0.3364 None gnomAD-4.0.0 7.20193E-06
25233 30 G/C 31 None 0.2737 None gnomAD-4.0.0 1.59252E-06
25234 31 G/A 32 None 0.4939 None gnomAD-4.0.0 1.20032E-06
25235 32 S/R 33 rs372834784 0.1690 None gnomAD-2.1.1 3.59E-05
25235 32 S/R 33 rs372834784 0.1690 None gnomAD-3.1.2 3.29E-05
25235 32 S/R 33 rs372834784 0.1690 None gnomAD-4.0.0 1.11591E-05
25236 33 D/E 34 None 0.9200 None gnomAD-4.0.0 6.84467E-07
25236 33 D/N 34 rs1707754880 0.9200 None gnomAD-4.0.0 3.18544E-06
25237 34 I/N 35 rs756017651 0.2390 None gnomAD-2.1.1 1.62E-05
25237 34 I/N 35 rs756017651 0.2390 None gnomAD-4.0.0 6.37048E-06
25237 34 I/T 35 rs756017651 0.2390 None gnomAD-2.1.1 4.04E-06
25237 34 I/T 35 rs756017651 0.2390 None gnomAD-4.0.0 1.59262E-06
25237 34 I/V 35 rs1412324143 0.2390 None gnomAD-2.1.1 4.04E-06
25237 34 I/V 35 rs1412324143 0.2390 None gnomAD-4.0.0 1.36891E-06
25238 35 I/K 36 None 0.4886 None gnomAD-4.0.0 2.73782E-06
25238 35 I/M 36 rs1473998672 0.4886 None gnomAD-2.1.1 4.04E-06
25238 35 I/M 36 rs1473998672 0.4886 None gnomAD-4.0.0 9.55569E-06
25238 35 I/V 36 rs1265824976 0.4886 None gnomAD-3.1.2 6.57E-06
25238 35 I/V 36 rs1265824976 0.4886 None gnomAD-4.0.0 6.57471E-06
25240 37 Y/H 38 rs1259012958 0.1482 None gnomAD-2.1.1 4.05E-06
25240 37 Y/H 38 rs1259012958 0.1482 None gnomAD-4.0.0 1.59268E-06
25241 38 I/T 39 rs752485989 0.2832 None gnomAD-2.1.1 1.21E-05
25241 38 I/T 39 rs752485989 0.2832 None gnomAD-4.0.0 7.5292E-06
25243 40 E/K 41 None 0.1297 None gnomAD-2.1.1 8.09E-06
25243 40 E/K 41 None 0.1297 None gnomAD-4.0.0 1.36895E-06
25243 40 E/Q 41 rs1114167338 0.1297 None gnomAD-2.1.1 8.09E-06
25243 40 E/Q 41 rs1114167338 0.1297 None gnomAD-4.0.0 6.84475E-07
25245 42 R/K 43 rs397517701 0.2131 None gnomAD-2.1.1 2.51E-05
25245 42 R/K 43 rs397517701 0.2131 None gnomAD-3.1.2 1.97E-05
25245 42 R/K 43 rs397517701 0.2131 None gnomAD-4.0.0 1.61187E-05
25245 42 R/T 43 rs397517701 0.2131 None gnomAD-2.1.1 4.05E-06
25245 42 R/T 43 rs397517701 0.2131 None gnomAD-3.1.2 6.58E-06
25245 42 R/T 43 rs397517701 0.2131 None gnomAD-4.0.0 2.47979E-06
25247 44 T/A 50 rs577368021 0.3697 None gnomAD-3.1.2 6.58E-06
25247 44 T/A 50 rs577368021 0.3697 None 1000 genomes 1.99681E-04
25247 44 T/A 50 rs577368021 0.3697 None gnomAD-4.0.0 6.57851E-06
25247 44 T/I 50 None 0.3697 None gnomAD-4.0.0 6.84455E-07
25247 44 T/N 50 None 0.3697 None gnomAD-4.0.0 1.36891E-06
25248 45 S/G 54 None 0.5860 None gnomAD-4.0.0 1.20032E-06
25248 45 S/N 54 rs1192508710 0.5860 None gnomAD-2.1.1 3.19E-05
25248 45 S/N 54 rs1192508710 0.5860 None gnomAD-3.1.2 6.58E-06
25248 45 S/N 54 rs1192508710 0.5860 None gnomAD-4.0.0 6.57566E-06
25249 46 R/C 60 rs397517702 0.4666 None gnomAD-2.1.1 8.2561E-04
25249 46 R/C 60 rs397517702 0.4666 None gnomAD-3.1.2 1.77613E-04
25249 46 R/C 60 rs397517702 0.4666 None 1000 genomes 1.19808E-03
25249 46 R/C 60 rs397517702 0.4666 None gnomAD-4.0.0 4.0232E-04
25249 46 R/H 60 rs773286477 0.4666 None gnomAD-2.1.1 4.45E-05
25249 46 R/H 60 rs773286477 0.4666 None gnomAD-3.1.2 1.97E-05
25249 46 R/H 60 rs773286477 0.4666 None gnomAD-4.0.0 3.40965E-05
25250 47 L/F 63 rs1231715116 1.2273 None gnomAD-2.1.1 4.05E-06
25250 47 L/F 63 rs1231715116 1.2273 None gnomAD-4.0.0 1.59251E-06
25251 48 V/A 64 rs765677670 0.7624 None gnomAD-2.1.1 7.18E-06
25251 48 V/A 64 rs765677670 0.7624 None gnomAD-3.1.2 1.97E-05
25251 48 V/A 64 rs765677670 0.7624 None gnomAD-4.0.0 4.06027E-06
25254 51 V/L 67 None 0.4671 None gnomAD-4.0.0 2.0533E-06
25254 51 V/M 67 None 0.4671 None gnomAD-4.0.0 2.0533E-06
25255 52 V/A 68 rs1226764220 0.3205 None gnomAD-2.1.1 4.05E-06
25255 52 V/A 68 rs1226764220 0.3205 None gnomAD-4.0.0 3.18492E-06
25257 54 A/G 70 None 0.4186 None gnomAD-4.0.0 1.20032E-06
25258 55 N/S 75 rs768945739 0.5736 None gnomAD-2.1.1 3.24E-05
25258 55 N/S 75 rs768945739 0.5736 None gnomAD-4.0.0 1.0951E-05
25258 55 N/T 75 rs768945739 0.5736 None gnomAD-2.1.1 3.19E-05
25258 55 N/T 75 rs768945739 0.5736 None gnomAD-3.1.2 6.57E-06
25258 55 N/T 75 rs768945739 0.5736 None gnomAD-4.0.0 6.57479E-06
25259 56 V/G 77 rs369977691 0.1308 None gnomAD-2.1.1 4.04E-06
25259 56 V/G 77 rs369977691 0.1308 None gnomAD-3.1.2 6.57E-06
25259 56 V/G 77 rs369977691 0.1308 None gnomAD-4.0.0 2.56393E-06
25260 57 Q/H 83 rs1707726034 0.7156 None gnomAD-4.0.0 8.21322E-06
25260 57 Q/R 83 None 0.7156 None gnomAD-4.0.0 1.36887E-06
25264 61 C/S 91 rs998269154 0.2031 None gnomAD-2.1.1 3.19E-05
25264 61 C/S 91 rs998269154 0.2031 None gnomAD-3.1.2 1.31E-05
25264 61 C/S 91 rs998269154 0.2031 None gnomAD-4.0.0 1.31479E-05
25265 62 K/N 92 None 0.6947 None gnomAD-4.0.0 6.84426E-07
25266 63 V/G 93 rs1707719104 0.1643 None gnomAD-3.1.2 6.58E-06
25266 63 V/G 93 rs1707719104 0.1643 None gnomAD-4.0.0 6.57644E-06
25266 63 V/I 93 rs1389153424 0.1643 None gnomAD-2.1.1 4.04E-06
25266 63 V/I 93 rs1389153424 0.1643 None gnomAD-4.0.0 1.36884E-06
25267 64 T/A 94 rs1707717762 0.4741 None gnomAD-4.0.0 1.5924E-06
25267 64 T/S 94 None 0.4741 None gnomAD-4.0.0 1.5924E-06
25268 65 K/N 96 rs1324895308 0.8497 None gnomAD-2.1.1 4.04E-06
25268 65 K/N 96 rs1324895308 0.8497 None gnomAD-4.0.0 1.59236E-06
25269 66 L/F 97 rs774210794 0.1493 None gnomAD-2.1.1 7.17E-06
25269 66 L/F 97 rs774210794 0.1493 None gnomAD-3.1.2 6.58E-06
25269 66 L/F 97 rs774210794 0.1493 None gnomAD-4.0.0 1.85969E-06
25269 66 L/P 97 rs1415495029 0.1493 None gnomAD-2.1.1 4.04E-06
25269 66 L/P 97 rs1415495029 0.1493 None gnomAD-4.0.0 1.59238E-06
25269 66 L/V 97 None 0.1493 None gnomAD-4.0.0 2.73767E-06
25271 68 E/G 99 rs1163400034 0.5823 None gnomAD-2.1.1 7.17E-06
25271 68 E/G 99 rs1163400034 0.5823 None gnomAD-3.1.2 6.58E-06
25271 68 E/G 99 rs1163400034 0.5823 None gnomAD-4.0.0 1.02553E-05
25272 69 G/S 100 rs377704090 0.4182 None gnomAD-2.1.1 7.17E-06
25272 69 G/S 100 rs377704090 0.4182 None gnomAD-3.1.2 6.57E-06
25272 69 G/S 100 rs377704090 0.4182 None gnomAD-4.0.0 4.06007E-06
25273 70 N/D 102 None 0.3484 None gnomAD-4.0.0 1.59236E-06
25273 70 N/S 102 None 0.3484 None gnomAD-4.0.0 1.59237E-06
25275 72 Y/C 104 None 0.1231 None gnomAD-4.0.0 3.18464E-06
25275 72 Y/H 104 rs1707703238 0.1231 None gnomAD-3.1.2 6.57E-06
25275 72 Y/H 104 rs1707703238 0.1231 None gnomAD-4.0.0 4.05994E-06
25276 73 T/I 105 rs748746031 0.1207 None gnomAD-2.1.1 4.04E-06
25276 73 T/I 105 rs748746031 0.1207 None gnomAD-4.0.0 1.59235E-06
25278 75 R/C 107 rs777445126 0.1672 None gnomAD-2.1.1 4.44E-05
25278 75 R/C 107 rs777445126 0.1672 None gnomAD-3.1.2 1.97E-05
25278 75 R/C 107 rs777445126 0.1672 None gnomAD-4.0.0 2.35567E-05
25278 75 R/H 107 rs769729114 0.1672 None gnomAD-2.1.1 4.66E-05
25278 75 R/H 107 rs769729114 0.1672 None gnomAD-3.1.2 1.11802E-04
25278 75 R/H 107 rs769729114 0.1672 None gnomAD-4.0.0 4.40129E-05
25279 76 I/M 108 rs897348852 0.0819 None gnomAD-2.1.1 3.19E-05
25279 76 I/M 108 rs897348852 0.0819 None gnomAD-3.1.2 6.57E-06
25279 76 I/M 108 rs897348852 0.0819 None gnomAD-4.0.0 6.57488E-06
25279 76 I/T 108 rs748074844 0.0819 None gnomAD-2.1.1 4.04E-06
25279 76 I/T 108 rs748074844 0.0819 None gnomAD-4.0.0 1.59226E-06
25280 77 M/I 109 rs780403765 0.1921 None gnomAD-4.0.0 1.43724E-05
25280 77 M/V 109 rs878918988 0.1921 None gnomAD-2.1.1 4.04E-06
25280 77 M/V 109 rs878918988 0.1921 None gnomAD-4.0.0 9.58149E-06
25281 78 A/S 110 rs754787711 0.1348 None gnomAD-2.1.1 5.73E-05
25281 78 A/S 110 rs754787711 0.1348 None gnomAD-3.1.2 3.29E-05
25281 78 A/S 110 rs754787711 0.1348 None gnomAD-4.0.0 1.54972E-05
25281 78 A/T 110 rs754787711 0.1348 None gnomAD-2.1.1 2.51E-05
25281 78 A/T 110 rs754787711 0.1348 None gnomAD-3.1.2 2.63E-05
25281 78 A/T 110 rs754787711 0.1348 None gnomAD-4.0.0 1.05381E-05
25281 78 A/V 110 rs1337558884 0.1348 None gnomAD-2.1.1 4.04E-06
25281 78 A/V 110 rs1337558884 0.1348 None gnomAD-4.0.0 1.59228E-06
25282 79 V/A 111 rs1230534095 0.1597 None gnomAD-2.1.1 4.04E-06
25282 79 V/A 111 rs1230534095 0.1597 None gnomAD-4.0.0 1.59221E-06
25282 79 V/I 111 rs751776506 0.1597 None gnomAD-2.1.1 8.07E-06
25282 79 V/I 111 rs751776506 0.1597 None gnomAD-4.0.0 4.77675E-06
25282 79 V/L 111 rs751776506 0.1597 None gnomAD-2.1.1 4.04E-06
25282 79 V/L 111 rs751776506 0.1597 None gnomAD-4.0.0 1.59225E-06
25285 82 Y/C 114 None 0.5480 None gnomAD-4.0.0 1.59214E-06
25286 83 G/D 115 rs780183753 0.1668 None gnomAD-2.1.1 4.03E-06
25286 83 G/D 115 rs780183753 0.1668 None gnomAD-4.0.0 3.1843E-06
25286 83 G/S 115 None 0.1668 None gnomAD-4.0.0 1.59218E-06
25287 84 V/I 117 None 0.5401 None gnomAD-4.0.0 1.20032E-06
25288 85 G/D 118 None 0.2361 None gnomAD-4.0.0 1.20032E-06
25289 86 E/G 119 None 0.5522 None gnomAD-4.0.0 1.20032E-06
25290 87 P/L 120 None 0.4822 None gnomAD-4.0.0 1.20032E-06
25291 88 L/P 121 rs1559388448 0.1970 None gnomAD-4.0.0 2.05307E-06
25292 89 E/D 122 rs1707677184 0.3548 None gnomAD-4.0.0 1.59208E-06
25292 89 E/Q 122 rs1015604651 0.3548 None gnomAD-4.0.0 1.59211E-06
25293 90 S/C 123 rs186240800 0.1942 None gnomAD-2.1.1 4.03E-06
25293 90 S/C 123 rs186240800 0.1942 None gnomAD-3.1.2 6.58E-06
25293 90 S/C 123 rs186240800 0.1942 None 1000 genomes 1.99681E-04
25293 90 S/C 123 rs186240800 0.1942 None gnomAD-4.0.0 8.97098E-06
25294 91 E/G 125 None 0.6907 None gnomAD-4.0.0 1.59206E-06
25294 91 E/Q 125 None 0.6907 None gnomAD-4.0.0 1.59206E-06
25295 92 P/L 126 None 0.4846 None gnomAD-4.0.0 1.20032E-06
25295 92 P/T 126 rs1487092042 0.4846 None gnomAD-3.1.2 1.32E-05
25295 92 P/T 126 rs1487092042 0.4846 None gnomAD-4.0.0 3.8457E-06
25296 93 V/A 127 rs765266847 0.3002 None gnomAD-2.1.1 1.21E-05
25296 93 V/A 127 rs765266847 0.3002 None gnomAD-4.0.0 3.42179E-06
25296 93 V/G 127 rs765266847 0.3002 None gnomAD-2.1.1 4.03E-06
25296 93 V/G 127 rs765266847 0.3002 None gnomAD-4.0.0 6.84358E-07
25298 95 A/P 130 None 0.1269 None gnomAD-4.0.0 1.20032E-06
25299 96 K/N 131 rs754354789 0.7383 None gnomAD-2.1.1 1.21E-05
25299 96 K/N 131 rs754354789 0.7383 None gnomAD-4.0.0 9.55222E-06
25299 96 K/Q 131 None 0.7383 None gnomAD-4.0.0 2.40064E-06