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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 S A P K E L K F G D I T K D S V H L T W E P P D D D G G S P L T G Y V V E K R E V S R K T W T K V M D F V T D L E F T V P D L V Q G K E Y L F K V C A R N K C G P G E P A Y V D E P V N M S T P A T V P D P P E N V K W R D R T A N S I F L T W D P P K N D G G S R I K G Y I V E R C P R G S D K W V A C G E P V A E T K M E V T G L E E G K W Y A Y R V K A L N R Q G A S K P S R P T E E I Q A V D T
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - V P D P P E N V K W R D R T A N S I F L T W D P P K N D G G S R I K G Y I V E R C P R G S D K W V A C G E P V A E T K M E V T G L E E G K W Y A Y R V K A L N R Q G A S K P S R P T E E I Q A V D -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
16155 1 V/I 1 rs748631024 0.3257 None gnomAD-2.1.1 3.59E-05
16155 1 V/I 1 rs748631024 0.3257 None gnomAD-3.1.2 1.98E-05
16155 1 V/I 1 rs748631024 0.3257 None gnomAD-4.0.0 1.54306E-05
16155 1 V/L 1 rs748631024 0.3257 None gnomAD-3.1.2 6.58E-06
16155 1 V/L 1 rs748631024 0.3257 None gnomAD-4.0.0 6.58415E-06
16156 2 P/S 2 rs373195648 0.0861 None gnomAD-2.1.1 8.07E-06
16156 2 P/S 2 rs373195648 0.0861 None gnomAD-3.1.2 6.58E-06
16156 2 P/S 2 rs373195648 0.0861 None gnomAD-4.0.0 1.86202E-05
16159 5 P/L 5 rs1238178074 0.1097 None gnomAD-4.0.0 1.36985E-06
16159 5 P/R 5 rs1238178074 0.1097 None gnomAD-2.1.1 4.03E-06
16159 5 P/R 5 rs1238178074 0.1097 None gnomAD-4.0.0 6.84927E-07
16160 6 E/K 6 rs1314919427 0.2821 None gnomAD-2.1.1 1.07E-05
16160 6 E/K 6 rs1314919427 0.2821 None gnomAD-3.1.2 6.58E-06
16160 6 E/K 6 rs1314919427 0.2821 None gnomAD-4.0.0 4.96271E-06
16161 7 N/S 7 rs755404483 0.4907 None gnomAD-2.1.1 4.03E-06
16161 7 N/S 7 rs755404483 0.4907 None gnomAD-4.0.0 1.59481E-06
16162 8 V/I 9 rs1240591275 0.2239 None gnomAD-2.1.1 4.03E-06
16162 8 V/L 9 rs1240591275 0.2239 None gnomAD-3.1.2 1.32E-05
16162 8 V/L 9 rs1240591275 0.2239 None gnomAD-4.0.0 3.04565E-06
16164 10 W/R 12 rs1040807161 0.3530 None gnomAD-4.0.0 1.59457E-06
16165 11 R/G 13 rs1404754680 0.3412 None gnomAD-2.1.1 3.19E-05
16165 11 R/G 13 rs1404754680 0.3412 None gnomAD-3.1.2 6.58E-06
16165 11 R/G 13 rs1404754680 0.3412 None gnomAD-4.0.0 2.56701E-06
16166 12 D/E 14 rs1429263816 0.5234 None gnomAD-3.1.2 1.32E-05
16166 12 D/E 14 rs1429263816 0.5234 None gnomAD-4.0.0 6.2024E-06
16166 12 D/G 14 rs2154206145 0.5234 None gnomAD-4.0.0 1.20032E-06
16166 12 D/N 14 None 0.5234 None gnomAD-4.0.0 1.59421E-06
16167 13 R/G 15 rs1312425985 0.2587 None gnomAD-2.1.1 4.03E-06
16167 13 R/G 15 rs1312425985 0.2587 None gnomAD-4.0.0 3.42388E-06
16167 13 R/Q 15 rs778774812 0.2587 None gnomAD-2.1.1 1.21E-05
16167 13 R/Q 15 rs778774812 0.2587 None gnomAD-4.0.0 7.53244E-06
16168 14 T/P 16 rs375878254 0.2980 None gnomAD-4.0.0 2.55139E-05
16168 14 T/R 16 None 0.2980 None gnomAD-4.0.0 1.59456E-06
16169 15 A/T 17 None 0.2261 None gnomAD-4.0.0 1.59423E-06
16170 16 N/S 18 rs370809363 0.5292 None gnomAD-2.1.1 6.44E-05
16170 16 N/S 18 rs370809363 0.5292 None gnomAD-3.1.2 2.3033E-04
16170 16 N/S 18 rs370809363 0.5292 None gnomAD-4.0.0 4.77502E-05
16170 16 N/T 18 rs370809363 0.5292 None gnomAD-2.1.1 2.01E-05
16170 16 N/T 18 rs370809363 0.5292 None gnomAD-3.1.2 6.58E-06
16170 16 N/T 18 rs370809363 0.5292 None gnomAD-4.0.0 2.10861E-05
16172 18 I/N 20 None 0.0809 None gnomAD-4.0.0 1.20032E-06
16173 19 F/L 21 None 0.2020 None gnomAD-4.0.0 1.20032E-06
16173 19 F/S 21 rs1576472588 0.2020 None gnomAD-4.0.0 1.20032E-06
16176 22 W/R 24 rs752645675 0.0932 None gnomAD-2.1.1 4.03E-06
16176 22 W/R 24 rs752645675 0.0932 None gnomAD-4.0.0 3.18748E-06
16177 23 D/H 25 rs1383656849 0.4094 None gnomAD-2.1.1 8.05E-06
16177 23 D/H 25 rs1383656849 0.4094 None gnomAD-4.0.0 3.18734E-06
16180 26 K/E 28 rs759396669 0.3335 None gnomAD-2.1.1 2.82E-05
16180 26 K/E 28 rs759396669 0.3335 None gnomAD-3.1.2 6.58E-06
16180 26 K/E 28 rs759396669 0.3335 None gnomAD-4.0.0 1.41122E-05
16182 28 D/A 30 rs762913484 0.2370 None gnomAD-2.1.1 2.14E-05
16182 28 D/A 30 rs762913484 0.2370 None gnomAD-3.1.2 6.58E-06
16182 28 D/A 30 rs762913484 0.2370 None gnomAD-4.0.0 1.30229E-05
16182 28 D/V 30 None 0.2370 None gnomAD-4.0.0 1.36928E-06
16182 28 D/Y 30 rs766675813 0.2370 None gnomAD-2.1.1 4.03E-06
16182 28 D/Y 30 rs766675813 0.2370 None gnomAD-4.0.0 1.59356E-06
16183 29 G/D 31 rs2057147235 0.0981 None gnomAD-3.1.2 6.58E-06
16183 29 G/D 31 rs2057147235 0.0981 None gnomAD-4.0.0 6.58467E-06
16184 30 G/A 32 None 0.4331 None gnomAD-4.0.0 1.36929E-06
16184 30 G/V 32 None 0.4331 None gnomAD-4.0.0 6.84643E-07
16186 32 R/C 34 rs377563403 0.8582 None gnomAD-2.1.1 8.46E-05
16186 32 R/C 34 rs377563403 0.8582 None gnomAD-3.1.2 3.95E-05
16186 32 R/C 34 rs377563403 0.8582 None gnomAD-4.0.0 3.59688E-05
16186 32 R/H 34 rs769784536 0.8582 None gnomAD-2.1.1 2.01E-05
16186 32 R/H 34 rs769784536 0.8582 None gnomAD-3.1.2 2.63E-05
16186 32 R/H 34 rs769784536 0.8582 None gnomAD-4.0.0 2.17058E-05
16186 32 R/L 34 rs769784536 0.8582 None gnomAD-2.1.1 4.03E-06
16186 32 R/L 34 rs769784536 0.8582 None gnomAD-3.1.2 1.98E-05
16186 32 R/L 34 rs769784536 0.8582 None gnomAD-4.0.0 6.20167E-06
16186 32 R/S 34 rs377563403 0.8582 None gnomAD-3.1.2 6.59E-06
16186 32 R/S 34 rs377563403 0.8582 None gnomAD-4.0.0 1.86059E-06
16187 33 I/S 35 rs777279411 0.1743 None gnomAD-2.1.1 1.21E-05
16187 33 I/S 35 rs777279411 0.1743 None gnomAD-4.0.0 5.47719E-06
16187 33 I/V 35 rs1312494208 0.1743 None gnomAD-2.1.1 4.03E-06
16187 33 I/V 35 rs1312494208 0.1743 None gnomAD-4.0.0 1.59365E-06
16188 34 K/N 36 None 0.7044 None gnomAD-4.0.0 1.20032E-06
16189 35 G/E 37 rs2057143975 0.1340 None gnomAD-3.1.2 6.58E-06
16189 35 G/E 37 rs2057143975 0.1340 None gnomAD-4.0.0 1.86047E-06
16189 35 G/V 37 None 0.1340 None gnomAD-4.0.0 1.36932E-06
16190 36 Y/H 38 rs1294316721 0.1166 None gnomAD-2.1.1 4.03E-06
16190 36 Y/H 38 rs1294316721 0.1166 None gnomAD-4.0.0 1.59374E-06
16191 37 I/M 39 None 0.3350 None gnomAD-4.0.0 4.78124E-06
16191 37 I/T 39 rs372753303 0.3350 None gnomAD-2.1.1 1.21E-05
16191 37 I/T 39 rs372753303 0.3350 None gnomAD-4.0.0 4.79266E-06
16191 37 I/V 39 rs747433688 0.3350 None gnomAD-2.1.1 3.93E-05
16191 37 I/V 39 rs747433688 0.3350 None gnomAD-3.1.2 3.95E-05
16191 37 I/V 39 rs747433688 0.3350 None gnomAD-4.0.0 6.63561E-05
16192 38 V/I 40 rs2057142108 0.1488 None gnomAD-4.0.0 1.59378E-06
16195 41 C/R 43 None 0.0868 None gnomAD-4.0.0 6.00161E-06
16195 41 C/Y 43 None 0.0868 None gnomAD-4.0.0 1.36944E-06
16196 42 P/L 44 rs1485291993 0.3254 None gnomAD-4.0.0 2.73891E-06
16196 42 P/S 44 None 0.3254 None gnomAD-4.0.0 1.20032E-06
16197 43 R/C 50 rs748917057 0.4877 None gnomAD-2.1.1 1.43E-05
16197 43 R/C 50 rs748917057 0.4877 None gnomAD-3.1.2 5.27E-05
16197 43 R/C 50 rs748917057 0.4877 None gnomAD-4.0.0 1.30249E-05
16197 43 R/G 50 rs748917057 0.4877 None gnomAD-2.1.1 4.03E-06
16197 43 R/G 50 rs748917057 0.4877 None gnomAD-4.0.0 1.36949E-06
16197 43 R/H 50 rs369826752 0.4877 None gnomAD-2.1.1 4.03E-06
16197 43 R/H 50 rs369826752 0.4877 None gnomAD-4.0.0 1.20032E-06
16198 44 G/A 51 None 0.7134 None gnomAD-4.0.0 1.36946E-06
16199 45 S/P 60 rs752629624 0.2847 None gnomAD-2.1.1 5.37E-05
16199 45 S/P 60 rs752629624 0.2847 None gnomAD-3.1.2 6.58E-05
16199 45 S/P 60 rs752629624 0.2847 None gnomAD-4.0.0 1.09157E-04
16199 45 S/Y 60 None 0.2847 None gnomAD-4.0.0 4.80129E-06
16202 48 W/R 65 None 0.2761 None gnomAD-4.0.0 1.59425E-06
16202 48 W/S 65 None 0.2761 None gnomAD-4.0.0 1.59412E-06
16205 51 C/F 68 None 0.3364 None gnomAD-4.0.0 6.84768E-07
16205 51 C/Y 68 rs2057138196 0.3364 None gnomAD-4.0.0 6.84768E-07
16207 53 E/Q 70 rs1372711773 0.7955 None gnomAD-2.1.1 4.03E-06
16207 53 E/Q 70 rs1372711773 0.7955 None gnomAD-4.0.0 3.18884E-06
16208 54 P/L 75 rs2057137481 0.4499 None gnomAD-3.1.2 6.58E-06
16208 54 P/L 75 rs2057137481 0.4499 None gnomAD-4.0.0 6.58423E-06
16209 55 V/A 77 None 0.2431 None gnomAD-4.0.0 1.59457E-06
16210 56 A/T 83 rs751399759 0.6072 None gnomAD-2.1.1 4.03E-06
16210 56 A/T 83 rs751399759 0.6072 None gnomAD-4.0.0 1.59463E-06
16212 58 T/I 89 None 0.2217 None gnomAD-4.0.0 1.59506E-06
16215 61 E/K 92 None 0.5200 None gnomAD-4.0.0 6.91755E-07
16215 61 E/Q 92 rs1193666714 0.5200 None gnomAD-4.0.0 6.91755E-07
16216 62 V/A 93 None 0.1629 None gnomAD-4.0.0 1.6308E-06
16217 63 T/R 94 None 0.6214 None gnomAD-4.0.0 1.63013E-06
16218 64 G/S 96 rs566086846 0.4493 None gnomAD-2.1.1 8.78E-06
16218 64 G/S 96 rs566086846 0.4493 None gnomAD-3.1.2 1.32E-05
16218 64 G/S 96 rs566086846 0.4493 None 1000 genomes 1.99681E-04
16218 64 G/S 96 rs566086846 0.4493 None gnomAD-4.0.0 5.22654E-06
16220 66 E/K 98 rs2057034942 0.4604 None gnomAD-4.0.0 1.63263E-06
16221 67 E/D 99 rs2057034517 0.7495 None gnomAD-4.0.0 1.6324E-06
16221 67 E/K 99 None 0.7495 None gnomAD-4.0.0 1.38346E-06
16222 68 G/D 100 rs762011828 0.2457 None gnomAD-2.1.1 1.33E-05
16222 68 G/D 100 rs762011828 0.2457 None gnomAD-3.1.2 6.58E-06
16222 68 G/D 100 rs762011828 0.2457 None gnomAD-4.0.0 7.85383E-06
16222 68 G/R 100 rs2057033941 0.2457 None gnomAD-3.1.2 6.59E-06
16222 68 G/R 100 rs2057033941 0.2457 None gnomAD-4.0.0 2.61688E-06
16223 69 K/T 102 rs1553704101 0.3891 None gnomAD-4.0.0 6.92033E-07
16224 70 W/R 103 rs148549746 0.2923 None gnomAD-2.1.1 4.69E-05
16224 70 W/R 103 rs148549746 0.2923 None gnomAD-3.1.2 5.27E-05
16224 70 W/R 103 rs148549746 0.2923 None 1000 genomes 1.99681E-04
16224 70 W/R 103 rs148549746 0.2923 None gnomAD-4.0.0 6.70232E-05
16225 71 Y/H 104 rs781080078 0.1172 None gnomAD-2.1.1 1.79E-05
16225 71 Y/H 104 rs781080078 0.1172 None gnomAD-3.1.2 6.58E-06
16225 71 Y/H 104 rs781080078 0.1172 None gnomAD-4.0.0 3.93481E-06
16226 72 A/G 105 None 0.1029 None gnomAD-4.0.0 6.93103E-07
16226 72 A/T 105 None 0.1029 None gnomAD-4.0.0 1.38581E-06
16226 72 A/V 105 None 0.1029 None gnomAD-4.0.0 6.93103E-07
16228 74 R/C 107 rs371305932 0.1090 None gnomAD-2.1.1 3.18E-05
16228 74 R/C 107 rs371305932 0.1090 None gnomAD-3.1.2 3.29E-05
16228 74 R/C 107 rs371305932 0.1090 None gnomAD-4.0.0 3.26363E-05
16228 74 R/H 107 rs368806005 0.1090 None gnomAD-2.1.1 1.71151E-04
16228 74 R/H 107 rs368806005 0.1090 None gnomAD-3.1.2 1.11945E-04
16228 74 R/H 107 rs368806005 0.1090 None gnomAD-4.0.0 8.59924E-05
16229 75 V/L 108 None 0.0783 None gnomAD-4.0.0 6.94107E-07
16229 75 V/M 108 rs758130661 0.0783 None gnomAD-2.1.1 2.8E-05
16229 75 V/M 108 rs758130661 0.0783 None gnomAD-3.1.2 3.29E-05
16229 75 V/M 108 rs758130661 0.0783 None gnomAD-4.0.0 4.70943E-05
16230 76 K/M 109 None 0.1899 None gnomAD-4.0.0 1.64772E-06
16231 77 A/D 110 None 0.0751 None gnomAD-4.0.0 6.94953E-07
16231 77 A/T 110 rs1423024320 0.0751 None gnomAD-4.0.0 1.38955E-06
16231 77 A/V 110 None 0.0751 None gnomAD-4.0.0 6.94953E-07
16233 79 N/S 112 None 0.0976 None gnomAD-4.0.0 1.39151E-06
16234 80 R/K 113 None 0.6199 None gnomAD-4.0.0 6.96339E-07
16235 81 Q/L 114 None 0.5455 None gnomAD-4.0.0 3.32415E-06
16236 82 G/A 115 rs570205160 0.2284 None gnomAD-2.1.1 4.82E-06
16236 82 G/A 115 rs570205160 0.2284 None gnomAD-3.1.2 6.58E-06
16236 82 G/A 115 rs570205160 0.2284 None 1000 genomes 1.99681E-04
16236 82 G/A 115 rs570205160 0.2284 None gnomAD-4.0.0 6.57774E-06
16236 82 G/C 115 rs1281660033 0.2284 None gnomAD-2.1.1 3.19E-05
16236 82 G/C 115 rs1281660033 0.2284 None gnomAD-3.1.2 6.58E-06
16236 82 G/C 115 rs1281660033 0.2284 None gnomAD-4.0.0 2.65832E-06
16237 83 A/S 117 None 0.3480 None gnomAD-4.0.0 1.67126E-06
16238 84 S/G 118 rs2057023163 0.0938 None gnomAD-4.0.0 2.09737E-06
16241 87 S/N 121 None 0.1114 None gnomAD-4.0.0 2.1041E-06
16242 88 R/I 122 rs2057021551 0.9281 None gnomAD-4.0.0 7.01908E-07
16243 89 P/A 123 rs72677242 0.3448 None gnomAD-4.0.0 1.40451E-06
16243 89 P/H 123 rs1176398842 0.3448 None gnomAD-4.0.0 7.02463E-07
16243 89 P/L 123 rs1176398842 0.3448 None gnomAD-2.1.1 8.96E-06
16243 89 P/L 123 rs1176398842 0.3448 None gnomAD-3.1.2 6.59E-06
16243 89 P/L 123 rs1176398842 0.3448 None gnomAD-4.0.0 6.3479E-06
16243 89 P/S 123 rs72677242 0.3448 None gnomAD-2.1.1 3.79376E-03
16243 89 P/S 123 rs72677242 0.3448 None gnomAD-3.1.2 3.10817E-03
16243 89 P/S 123 rs72677242 0.3448 None 1000 genomes 1.59744E-03
16243 89 P/S 123 rs72677242 0.3448 None gnomAD-4.0.0 2.45184E-03
16243 89 P/T 123 None 0.3448 None gnomAD-2.1.1 3.63E-05
16243 89 P/T 123 None 0.3448 None gnomAD-3.1.2 1.98E-05
16243 89 P/T 123 None 0.3448 None gnomAD-4.0.0 1.04071E-04
16244 90 T/I 124 None 0.1685 None gnomAD-4.0.0 1.69463E-06
16248 94 Q/K 129 rs890836589 0.1927 None gnomAD-2.1.1 5.32E-06
16248 94 Q/K 129 rs890836589 0.1927 None gnomAD-3.1.2 6.58E-06
16248 94 Q/K 129 rs890836589 0.1927 None gnomAD-4.0.0 1.33488E-05
16248 94 Q/R 129 rs2057018597 0.1927 None gnomAD-4.0.0 1.70085E-06
16249 95 A/V 130 rs371625730 0.0858 None gnomAD-3.1.2 6.58E-06
16249 95 A/V 130 rs371625730 0.0858 None gnomAD-4.0.0 6.58415E-06
16250 96 V/M 131 rs1051281754 0.2640 None gnomAD-2.1.1 5.38E-06
16250 96 V/M 131 rs1051281754 0.2640 None gnomAD-4.0.0 3.40664E-06
16251 97 D/G 132 None 0.7472 None gnomAD-4.0.0 7.04304E-07
16251 97 D/N 132 rs199954570 0.7472 None gnomAD-2.1.1 3.23E-05
16251 97 D/N 132 rs199954570 0.7472 None gnomAD-3.1.2 5.93E-05
16251 97 D/N 132 rs199954570 0.7472 None gnomAD-4.0.0 3.0539E-05