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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
26088 1 P/L 1 None 1.0074 None gnomAD-4.0.0 2.05291E-06
26090 3 D/N 3 rs1197356544 0.3381 None gnomAD-2.1.1 4.02E-06
26090 3 D/N 3 rs1197356544 0.3381 None gnomAD-3.1.2 6.58E-06
26090 3 D/N 3 rs1197356544 0.3381 None gnomAD-4.0.0 6.19806E-06
26091 4 P/S 4 None 0.3020 None gnomAD-4.0.0 6.84317E-07
26091 4 P/T 4 rs1706513833 0.3020 None gnomAD-3.1.2 6.58E-06
26091 4 P/T 4 rs1706513833 0.3020 None gnomAD-4.0.0 1.23973E-06
26092 5 P/R 5 rs745927210 0.1193 None gnomAD-2.1.1 4.02E-06
26092 5 P/R 5 rs745927210 0.1193 None gnomAD-4.0.0 4.7754E-06
26093 6 G/R 6 rs757813739 0.2268 None gnomAD-2.1.1 8.04E-06
26093 6 G/R 6 rs757813739 0.2268 None gnomAD-3.1.2 6.58E-06
26093 6 G/R 6 rs757813739 0.2268 None gnomAD-4.0.0 6.19836E-06
26094 7 T/N 7 None 0.4028 None gnomAD-4.0.0 2.40064E-06
26094 7 T/S 7 None 0.4028 None gnomAD-4.0.0 1.5918E-06
26095 8 P/A 9 rs912485960 0.1323 None gnomAD-2.1.1 4.02E-06
26095 8 P/A 9 rs912485960 0.1323 None gnomAD-3.1.2 5.92E-05
26095 8 P/A 9 rs912485960 0.1323 None gnomAD-4.0.0 2.1789E-05
26095 8 P/Q 9 rs918621187 0.1323 None gnomAD-3.1.2 6.58E-06
26095 8 P/Q 9 rs918621187 0.1323 None gnomAD-4.0.0 3.04523E-06
26096 9 E/K 11 rs370515843 0.7404 None gnomAD-2.1.1 4.02E-06
26096 9 E/K 11 rs370515843 0.7404 None gnomAD-3.1.2 1.97E-05
26096 9 E/K 11 rs370515843 0.7404 None gnomAD-4.0.0 5.12656E-06
26097 10 P/Q 12 rs375623167 0.4266 None gnomAD-2.1.1 4.02E-06
26097 10 P/R 12 rs375623167 0.4266 None gnomAD-2.1.1 4.02E-06
26097 10 P/R 12 rs375623167 0.4266 None gnomAD-4.0.0 3.18376E-06
26097 10 P/S 12 None 0.4266 None gnomAD-4.0.0 1.36863E-06
26099 12 M/L 14 rs374376033 0.3609 None gnomAD-3.1.2 6.58E-06
26099 12 M/L 14 rs374376033 0.3609 None gnomAD-4.0.0 6.57514E-06
26099 12 M/R 14 rs1346797877 0.3609 None gnomAD-2.1.1 4.02E-06
26099 12 M/R 14 rs1346797877 0.3609 None gnomAD-4.0.0 2.05294E-06
26099 12 M/T 14 None 0.3609 None gnomAD-4.0.0 5.4745E-06
26099 12 M/V 14 rs374376033 0.3609 None gnomAD-2.1.1 1.07E-05
26099 12 M/V 14 rs374376033 0.3609 None gnomAD-3.1.2 4.6E-05
26099 12 M/V 14 rs374376033 0.3609 None gnomAD-4.0.0 7.43761E-06
26101 14 K/T 16 rs749914062 0.3016 None gnomAD-2.1.1 1.21E-05
26101 14 K/T 16 rs749914062 0.3016 None gnomAD-3.1.2 6.57E-06
26101 14 K/T 16 rs749914062 0.3016 None gnomAD-4.0.0 1.53786E-05
26102 15 R/G 17 rs765201089 0.5592 None gnomAD-2.1.1 4.02E-05
26102 15 R/G 17 rs765201089 0.5592 None gnomAD-3.1.2 6.57E-06
26102 15 R/G 17 rs765201089 0.5592 None gnomAD-4.0.0 1.11564E-05
26102 15 R/I 17 None 0.5592 None gnomAD-4.0.0 1.36865E-06
26104 17 E/G 19 None 0.2752 None gnomAD-4.0.0 1.20032E-06
26105 18 I/T 20 None 0.0842 None gnomAD-4.0.0 1.20032E-06
26106 19 T/I 21 rs1706489546 0.1500 None gnomAD-3.1.2 6.57E-06
26106 19 T/I 21 rs1706489546 0.1500 None gnomAD-4.0.0 5.07504E-06
26106 19 T/S 21 rs768440075 0.1500 None gnomAD-2.1.1 4.02E-06
26107 20 L/S 22 rs2154166544 0.0991 None gnomAD-3.1.2 6.57E-06
26108 21 Q/H 23 None 0.4595 None gnomAD-4.0.0 4.8013E-06
26108 21 Q/R 23 rs370963021 0.4595 None gnomAD-2.1.1 1.43E-05
26108 21 Q/R 23 rs370963021 0.4595 None gnomAD-3.1.2 2.63E-05
26108 21 Q/R 23 rs370963021 0.4595 None gnomAD-4.0.0 3.84269E-05
26110 23 T/P 25 None 0.6747 None gnomAD-4.0.0 1.20033E-06
26112 25 P/R 27 None 0.1632 None gnomAD-4.0.0 1.59192E-06
26112 25 P/T 27 None 0.1632 None gnomAD-4.0.0 1.36864E-06
26113 26 V/A 28 None 0.9574 None gnomAD-4.0.0 1.20033E-06
26114 27 Y/C 29 None 0.4615 None gnomAD-4.0.0 1.59195E-06
26115 28 D/A 30 rs772167133 0.2294 None gnomAD-2.1.1 1.21E-05
26115 28 D/A 30 rs772167133 0.2294 None gnomAD-4.0.0 1.2318E-05
26115 28 D/N 30 rs377493254 0.2294 None gnomAD-2.1.1 4.02E-06
26116 29 G/A 31 rs1471014707 0.2261 None gnomAD-2.1.1 8.05E-06
26116 29 G/A 31 rs1471014707 0.2261 None gnomAD-4.0.0 2.05301E-06
26116 29 G/D 31 None 0.2261 None gnomAD-4.0.0 1.36867E-06
26117 30 G/A 32 rs1307239862 0.4849 None gnomAD-3.1.2 6.57E-06
26117 30 G/A 32 rs1307239862 0.4849 None gnomAD-4.0.0 3.09911E-06
26118 31 S/G 33 None 0.2326 None gnomAD-4.0.0 1.59195E-06
26118 31 S/I 33 rs779102037 0.2326 None gnomAD-2.1.1 1.61E-05
26118 31 S/I 33 rs779102037 0.2326 None gnomAD-3.1.2 6.57E-06
26118 31 S/I 33 rs779102037 0.2326 None gnomAD-4.0.0 8.97125E-06
26119 32 M/T 34 None 0.5906 None gnomAD-4.0.0 2.73737E-06
26119 32 M/V 34 rs1231026101 0.5906 None gnomAD-2.1.1 4.03E-06
26119 32 M/V 34 rs1231026101 0.5906 None gnomAD-4.0.0 4.79036E-06
26120 33 I/F 35 None 0.1726 None gnomAD-4.0.0 1.20032E-06
26122 35 G/D 37 rs771589854 0.0844 None gnomAD-2.1.1 7.15E-06
26122 35 G/D 37 rs771589854 0.0844 None gnomAD-3.1.2 6.57E-06
26122 35 G/D 37 rs771589854 0.0844 None gnomAD-4.0.0 3.84491E-06
26123 36 Y/C 38 None 0.1008 None gnomAD-4.0.0 1.20032E-06
26123 36 Y/N 38 rs1706474131 0.1008 None gnomAD-4.0.0 2.40064E-06
26124 37 I/L 39 None 0.3177 None gnomAD-4.0.0 6.84357E-07
26124 37 I/M 39 None 0.3177 None gnomAD-4.0.0 2.05312E-06
26124 37 I/N 39 rs778290450 0.3177 None gnomAD-2.1.1 7.51E-05
26124 37 I/N 39 rs778290450 0.3177 None gnomAD-3.1.2 3.94E-05
26124 37 I/N 39 rs778290450 0.3177 None gnomAD-4.0.0 2.29342E-05
26124 37 I/T 39 rs778290450 0.3177 None gnomAD-2.1.1 2.86E-05
26124 37 I/T 39 rs778290450 0.3177 None gnomAD-3.1.2 6.57E-06
26124 37 I/T 39 rs778290450 0.3177 None gnomAD-4.0.0 8.05796E-06
26124 37 I/V 39 rs397517713 0.3177 None gnomAD-4.0.0 2.73743E-06
26125 38 V/I 40 rs1213696680 0.0956 None gnomAD-3.1.2 1.31E-05
26125 38 V/I 40 rs1213696680 0.0956 None gnomAD-4.0.0 1.31492E-05
26126 39 E/Q 41 rs1325081624 0.1636 None gnomAD-2.1.1 4.03E-06
26126 39 E/Q 41 rs1325081624 0.1636 None gnomAD-4.0.0 1.59236E-06
26127 40 K/T 42 None 0.2116 None gnomAD-4.0.0 1.20032E-06
26128 41 R/C 43 rs373530641 0.2546 None gnomAD-2.1.1 1.61E-05
26128 41 R/C 43 rs373530641 0.2546 None gnomAD-3.1.2 1.32E-05
26128 41 R/C 43 rs373530641 0.2546 None gnomAD-4.0.0 2.48008E-05
26128 41 R/H 43 rs757957389 0.2546 None gnomAD-2.1.1 1.43E-05
26128 41 R/H 43 rs757957389 0.2546 None gnomAD-3.1.2 3.29E-05
26128 41 R/H 43 rs757957389 0.2546 None gnomAD-4.0.0 9.30003E-06
26128 41 R/L 43 None 0.2546 None gnomAD-4.0.0 6.84556E-07
26128 41 R/P 43 rs757957389 0.2546 None gnomAD-2.1.1 8.06E-06
26128 41 R/S 43 None 0.2546 None gnomAD-4.0.0 1.36911E-06
26129 42 D/G 44 rs1297041151 0.3611 None gnomAD-2.1.1 3.19E-05
26129 42 D/G 44 rs1297041151 0.3611 None gnomAD-3.1.2 6.58E-06
26129 42 D/G 44 rs1297041151 0.3611 None gnomAD-4.0.0 6.57523E-06
26129 42 D/Y 44 rs199814673 0.3611 None gnomAD-2.1.1 9.68E-05
26129 42 D/Y 44 rs199814673 0.3611 None gnomAD-3.1.2 2.63E-05
26129 42 D/Y 44 rs199814673 0.3611 None gnomAD-4.0.0 8.33598E-05
26131 44 P/L 54 None 0.6323 None gnomAD-4.0.0 1.59355E-06
26131 44 P/S 54 rs764676279 0.6323 None gnomAD-2.1.1 4.03E-06
26131 44 P/S 54 rs764676279 0.6323 None gnomAD-4.0.0 6.37448E-06
26132 45 D/N 60 rs757198030 0.9427 None gnomAD-2.1.1 1.21E-05
26132 45 D/N 60 rs757198030 0.9427 None gnomAD-3.1.2 6.58E-06
26132 45 D/N 60 rs757198030 0.9427 None gnomAD-4.0.0 5.58078E-06
26132 45 D/Y 60 rs757198030 0.9427 None gnomAD-2.1.1 4.03E-06
26132 45 D/Y 60 rs757198030 0.9427 None gnomAD-4.0.0 6.84647E-07
26133 46 G/S 63 rs1706451609 0.3112 None gnomAD-4.0.0 1.59379E-06
26134 47 R/C 64 rs753708513 0.7265 None gnomAD-2.1.1 8.07E-06
26134 47 R/C 64 rs753708513 0.7265 None gnomAD-4.0.0 9.56813E-06
26134 47 R/H 64 rs377668457 0.7265 None gnomAD-2.1.1 2.87E-05
26134 47 R/H 64 rs377668457 0.7265 None gnomAD-3.1.2 6.58E-06
26134 47 R/H 64 rs377668457 0.7265 None gnomAD-4.0.0 7.93874E-05
26135 48 W/G 65 None 0.2516 None gnomAD-4.0.0 6.84771E-07
26135 48 W/R 65 None 0.2516 None gnomAD-4.0.0 1.36954E-06
26136 49 M/I 66 None 0.2907 None gnomAD-4.0.0 1.59486E-06
26136 49 M/T 66 rs1454726736 0.2907 None gnomAD-2.1.1 8.07E-06
26136 49 M/T 66 rs1454726736 0.2907 None gnomAD-4.0.0 6.37853E-06
26137 50 K/N 67 None 0.2951 None gnomAD-4.0.0 6.84843E-07
26137 50 K/R 67 None 0.2951 None gnomAD-4.0.0 1.59477E-06
26138 51 A/D 68 rs373587432 0.1419 None gnomAD-2.1.1 1.43E-05
26138 51 A/D 68 rs373587432 0.1419 None gnomAD-3.1.2 2.63E-05
26138 51 A/D 68 rs373587432 0.1419 None gnomAD-4.0.0 1.05446E-05
26138 51 A/S 68 None 0.1419 None gnomAD-4.0.0 6.84865E-07
26142 55 N/T 75 rs775124678 0.4518 None gnomAD-4.0.0 4.78722E-06
26143 56 V/I 77 None 0.1129 None gnomAD-4.0.0 1.59627E-06
26144 57 I/M 83 rs759786276 0.8258 None gnomAD-2.1.1 8.08E-06
26144 57 I/M 83 rs759786276 0.8258 None gnomAD-3.1.2 1.32E-05
26144 57 I/M 83 rs759786276 0.8258 None gnomAD-4.0.0 3.72256E-06
26144 57 I/N 83 None 0.8258 None gnomAD-4.0.0 6.85105E-07
26144 57 I/T 83 rs183015944 0.8258 None gnomAD-2.1.1 1.69715E-04
26144 57 I/T 83 rs183015944 0.8258 None gnomAD-3.1.2 5.92E-05
26144 57 I/T 83 rs183015944 0.8258 None 1000 genomes 1.99681E-04
26144 57 I/T 83 rs183015944 0.8258 None gnomAD-4.0.0 6.20404E-05
26145 58 E/K 88 rs1405668603 0.7272 None gnomAD-2.1.1 4.04E-06
26147 60 Q/E 90 rs774587761 0.4363 None gnomAD-2.1.1 2.02E-05
26147 60 Q/E 90 rs774587761 0.4363 None gnomAD-4.0.0 6.85138E-06
26147 60 Q/H 90 rs749374532 0.4363 None gnomAD-2.1.1 1.21E-05
26147 60 Q/H 90 rs749374532 0.4363 None gnomAD-3.1.2 1.32E-05
26147 60 Q/H 90 rs749374532 0.4363 None gnomAD-4.0.0 6.20374E-06
26148 61 F/C 91 rs956398655 0.2098 None gnomAD-3.1.2 6.57E-06
26148 61 F/C 91 rs956398655 0.2098 None gnomAD-4.0.0 5.13554E-06
26149 62 T/S 92 rs191263181 0.2827 None gnomAD-2.1.1 8.61E-05
26149 62 T/S 92 rs191263181 0.2827 None gnomAD-3.1.2 2.16945E-04
26149 62 T/S 92 rs191263181 0.2827 None 1000 genomes 1.99681E-04
26149 62 T/S 92 rs191263181 0.2827 None gnomAD-4.0.0 4.40428E-05
26150 63 V/A 93 rs748589083 0.1363 None gnomAD-2.1.1 1.21E-05
26150 63 V/A 93 rs748589083 0.1363 None gnomAD-3.1.2 6.57E-06
26150 63 V/A 93 rs748589083 0.1363 None gnomAD-4.0.0 3.10143E-06
26150 63 V/M 93 None 0.1363 None gnomAD-4.0.0 1.59534E-06
26152 65 G/C 96 None 0.5459 None gnomAD-4.0.0 6.84836E-07
26152 65 G/D 96 None 0.5459 None gnomAD-4.0.0 1.59453E-06
26152 65 G/S 96 rs781374181 0.5459 None gnomAD-2.1.1 4.04E-06
26152 65 G/S 96 rs781374181 0.5459 None gnomAD-4.0.0 2.05451E-06
26154 67 T/I 98 rs745461908 0.5117 None gnomAD-2.1.1 1.08E-05
26154 67 T/I 98 rs745461908 0.5117 None gnomAD-3.1.2 6.58E-06
26154 67 T/I 98 rs745461908 0.5117 None gnomAD-4.0.0 2.4809E-06
26154 67 T/P 98 rs1286984854 0.5117 None gnomAD-2.1.1 4.04E-06
26154 67 T/P 98 rs1286984854 0.5117 None gnomAD-4.0.0 1.59459E-06
26155 68 E/K 99 rs778395291 0.4365 None gnomAD-2.1.1 4.04E-06
26155 68 E/K 99 rs778395291 0.4365 None gnomAD-4.0.0 1.59479E-06
26158 71 R/K 103 None 0.4592 None gnomAD-4.0.0 6.84868E-07
26158 71 R/T 103 rs1248526272 0.4592 None gnomAD-2.1.1 4.04E-06
26158 71 R/T 103 rs1248526272 0.4592 None gnomAD-3.1.2 1.32E-05
26158 71 R/T 103 rs1248526272 0.4592 None gnomAD-4.0.0 2.48105E-06
26159 72 Y/N 104 None 0.1103 None gnomAD-4.0.0 2.05456E-06
26160 73 E/A 105 None 0.1198 None gnomAD-4.0.0 1.20033E-06
26161 74 F/L 106 rs876658082 0.1006 None gnomAD-3.1.2 6.57E-06
26161 74 F/L 106 rs876658082 0.1006 None gnomAD-4.0.0 6.57462E-06
26162 75 R/K 107 rs145185269 0.1521 None gnomAD-2.1.1 4.04E-06
26162 75 R/K 107 rs145185269 0.1521 None gnomAD-3.1.2 6.57E-06
26162 75 R/K 107 rs145185269 0.1521 None gnomAD-4.0.0 5.58176E-06
26163 76 V/L 108 rs1428745841 0.0753 None gnomAD-2.1.1 4.04E-06
26163 76 V/L 108 rs1428745841 0.0753 None gnomAD-4.0.0 1.59481E-06
26164 77 I/M 109 rs1172977615 0.1437 None gnomAD-2.1.1 3.19E-05
26164 77 I/V 109 rs764140362 0.1437 None gnomAD-2.1.1 1.21E-05
26164 77 I/V 109 rs764140362 0.1437 None gnomAD-4.0.0 3.18976E-06
26165 78 A/T 110 rs886039080 0.0940 None gnomAD-2.1.1 7.17E-06
26165 78 A/T 110 rs886039080 0.0940 None gnomAD-3.1.2 1.97E-05
26165 78 A/T 110 rs886039080 0.0940 None gnomAD-4.0.0 9.92483E-06
26165 78 A/V 110 rs2154166413 0.0940 None gnomAD-3.1.2 6.57E-06
26165 78 A/V 110 rs2154166413 0.0940 None gnomAD-4.0.0 1.86073E-06
26168 81 A/P 113 None 0.3683 None gnomAD-4.0.0 6.84955E-07
26168 81 A/V 113 rs755972936 0.3683 None gnomAD-2.1.1 4.04E-06
26168 81 A/V 113 rs755972936 0.3683 None gnomAD-4.0.0 1.59538E-06
26170 83 G/S 115 rs781248790 0.3503 None gnomAD-2.1.1 1.08E-05
26170 83 G/S 115 rs781248790 0.3503 None gnomAD-3.1.2 1.97E-05
26170 83 G/S 115 rs781248790 0.3503 None gnomAD-4.0.0 1.05471E-05
26171 84 A/G 116 None 0.3084 None gnomAD-4.0.0 1.59587E-06
26171 84 A/T 116 rs1706388578 0.3084 None gnomAD-3.1.2 6.57E-06
26171 84 A/T 116 rs1706388578 0.3084 None gnomAD-4.0.0 1.86122E-06
26171 84 A/V 116 rs1706387340 0.3084 None gnomAD-3.1.2 6.58E-06
26171 84 A/V 116 rs1706387340 0.3084 None gnomAD-4.0.0 6.57774E-06
26172 85 I/V 117 None 0.5997 None gnomAD-4.0.0 1.59552E-06
26173 86 S/R 118 rs771241552 0.1195 None gnomAD-2.1.1 2.83E-05
26173 86 S/R 118 rs771241552 0.1195 None gnomAD-3.1.2 1.97E-05
26173 86 S/R 118 rs771241552 0.1195 None gnomAD-4.0.0 5.58303E-05
26174 87 K/E 119 rs1157744481 0.8281 None gnomAD-4.0.0 3.19164E-06
26175 88 P/H 120 None 0.3236 None gnomAD-4.0.0 6.1657E-06
26175 88 P/L 120 rs759843428 0.3236 None gnomAD-2.1.1 4.04E-06
26175 88 P/L 120 rs759843428 0.3236 None gnomAD-4.0.0 6.85078E-07
26175 88 P/S 120 None 0.3236 None gnomAD-4.0.0 1.59572E-06
26176 89 S/P 121 None 0.1201 None gnomAD-4.0.0 6.85091E-07
26177 90 D/N 122 None 0.8701 None gnomAD-4.0.0 1.59637E-06
26179 92 T/N 124 None 0.2131 None gnomAD-4.0.0 1.5965E-06
26180 93 G/E 125 None 0.2688 None gnomAD-4.0.0 1.59751E-06
26180 93 G/R 125 rs774781891 0.2688 None gnomAD-2.1.1 4.05E-06
26180 93 G/R 125 rs774781891 0.2688 None gnomAD-3.1.2 6.58E-06
26180 93 G/R 125 rs774781891 0.2688 None gnomAD-4.0.0 6.20683E-06
26181 94 P/L 126 rs1467251247 0.5336 None gnomAD-4.0.0 1.603E-06
26181 94 P/T 126 None 0.5336 None gnomAD-4.0.0 1.20032E-06
26182 95 I/V 127 None 0.1730 None gnomAD-4.0.0 2.05771E-06
26184 97 A/T 130 rs1193775017 0.0763 None gnomAD-2.1.1 3.19E-05
26184 97 A/T 130 rs1193775017 0.0763 None gnomAD-3.1.2 6.57E-06
26184 97 A/T 130 rs1193775017 0.0763 None gnomAD-4.0.0 2.57658E-06
26185 98 K/N 131 rs1474159938 0.4785 None gnomAD-2.1.1 4.06E-06
26185 98 K/N 131 rs1474159938 0.4785 None gnomAD-3.1.2 1.32E-05
26185 98 K/N 131 rs1474159938 0.4785 None gnomAD-4.0.0 3.86422E-06
26185 98 K/R 131 rs1455158405 0.4785 None gnomAD-2.1.1 3.19E-05
26185 98 K/R 131 rs1455158405 0.4785 None gnomAD-3.1.2 6.57E-06
26185 98 K/R 131 rs1455158405 0.4785 None gnomAD-4.0.0 2.02998E-06