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

Map SAVs to Structure

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
25514 1 L/P 1 rs1553601755 0.8231 None gnomAD-3.1.2 6.58E-06
25514 1 L/P 1 rs1553601755 0.8231 None gnomAD-4.0.0 6.57687E-06
25514 1 L/V 1 None 0.8231 None gnomAD-4.0.0 1.59377E-06
25515 2 E/K 2 rs755797898 0.3991 None gnomAD-2.1.1 8.12E-06
25516 3 L/I 3 rs752300467 0.2397 None gnomAD-2.1.1 1.22E-05
25516 3 L/I 3 rs752300467 0.2397 None gnomAD-3.1.2 6.58E-06
25516 3 L/I 3 rs752300467 0.2397 None gnomAD-4.0.0 6.20099E-06
25517 4 R/G 8 rs780584058 0.5055 None gnomAD-4.0.0 2.05375E-06
25518 5 K/R 9 None 0.3852 None gnomAD-4.0.0 1.20033E-06
25519 6 I/T 11 rs376185524 0.5099 None 1000 genomes 1.99681E-04
25519 6 I/T 11 rs376185524 0.5099 None gnomAD-2.1.1 4.86E-05
25519 6 I/T 11 rs376185524 0.5099 None gnomAD-3.1.2 1.97E-05
25519 6 I/T 11 rs376185524 0.5099 None gnomAD-4.0.0 2.41808E-05
25519 6 I/N 11 rs376185524 0.5099 None gnomAD-4.0.0 2.05366E-06
25520 7 I/T 13 rs1553601714 0.2533 None gnomAD-4.0.0 1.36904E-06
25522 9 I/T 16 rs372963832 0.1935 None gnomAD-2.1.1 4.04E-06
25522 9 I/T 16 rs372963832 0.1935 None gnomAD-3.1.2 1.32E-05
25522 9 I/T 16 rs372963832 0.1935 None gnomAD-4.0.0 1.67399E-05
25522 9 I/V 16 rs1403999176 0.1935 None gnomAD-3.1.2 1.97E-05
25522 9 I/V 16 rs1403999176 0.1935 None gnomAD-4.0.0 5.12934E-06
25523 10 R/S 18 None 0.7940 None gnomAD-4.0.0 6.84503E-07
25524 11 A/T 23 rs766397845 0.4310 None gnomAD-2.1.1 4.04E-06
25525 12 G/V 24 rs1428374737 0.3736 None gnomAD-3.1.2 6.58E-06
25525 12 G/V 24 rs1428374737 0.3736 None gnomAD-4.0.0 6.57869E-06
25525 12 G/S 24 None 0.3736 None gnomAD-4.0.0 1.59282E-06
25525 12 G/D 24 rs1428374737 0.3736 None gnomAD-2.1.1 4.04E-06
25525 12 G/D 24 rs1428374737 0.3736 None gnomAD-4.0.0 1.5928E-06
25526 13 G/V 25 None 0.2283 None gnomAD-4.0.0 6.8455E-07
25526 13 G/S 25 rs1246585720 0.2283 None gnomAD-2.1.1 4.04E-06
25526 13 G/S 25 rs1246585720 0.2283 None gnomAD-4.0.0 1.59277E-06
25526 13 G/D 25 rs369344156 0.2283 None gnomAD-2.1.1 3.19E-05
25526 13 G/D 25 rs369344156 0.2283 None gnomAD-3.1.2 1.32E-05
25526 13 G/D 25 rs369344156 0.2283 None gnomAD-4.0.0 1.92212E-05
25526 13 G/A 25 None 0.2283 None gnomAD-4.0.0 6.8455E-07
25529 16 R/K 29 rs750282861 0.5759 None gnomAD-2.1.1 2.42E-05
25529 16 R/K 29 rs750282861 0.5759 None gnomAD-4.0.0 4.10715E-06
25530 17 L/S 30 rs1465564864 0.1622 None gnomAD-2.1.1 4.04E-06
25530 17 L/S 30 rs1465564864 0.1622 None gnomAD-3.1.2 6.58E-06
25530 17 L/S 30 rs1465564864 0.1622 None gnomAD-4.0.0 1.86024E-06
25530 17 L/F 30 rs184034300 0.1622 None 1000 genomes 1.99681E-04
25530 17 L/F 30 rs184034300 0.1622 None gnomAD-2.1.1 1.79143E-04
25530 17 L/F 30 rs184034300 0.1622 None gnomAD-3.1.2 1.38167E-04
25530 17 L/F 30 rs184034300 0.1622 None gnomAD-4.0.0 6.84613E-07
25531 18 F/I 31 rs878933531 0.3775 None gnomAD-4.0.0 3.60097E-06
25531 18 F/S 31 rs976954474 0.3775 None gnomAD-2.1.1 7.16E-06
25531 18 F/S 31 rs976954474 0.3775 None gnomAD-3.1.2 1.32E-05
25531 18 F/S 31 rs976954474 0.3775 None gnomAD-4.0.0 3.10039E-06
25532 19 V/A 33 rs55984930 0.1207 None gnomAD-2.1.1 2.83E-05
25532 19 V/A 33 rs55984930 0.1207 None gnomAD-4.0.0 7.5315E-06
25532 19 V/F 33 rs1358589426 0.1207 None gnomAD-2.1.1 4.04E-06
25532 19 V/F 33 rs1358589426 0.1207 None gnomAD-4.0.0 2.73847E-06
25532 19 V/L 33 None 0.1207 None gnomAD-4.0.0 6.84618E-07
25533 20 P/S 34 rs1707347772 0.2837 None gnomAD-4.0.0 3.60097E-06
25534 21 I/V 35 rs1245433477 0.1102 None gnomAD-2.1.1 4.04E-06
25534 21 I/V 35 rs1245433477 0.1102 None gnomAD-4.0.0 6.84689E-07
25534 21 I/L 35 rs1245433477 0.1102 None gnomAD-2.1.1 4.04E-06
25534 21 I/L 35 rs1245433477 0.1102 None gnomAD-4.0.0 6.84689E-07
25536 23 G/V 40 rs1021201663 0.1701 None gnomAD-4.0.0 1.59386E-06
25536 23 G/D 40 rs1021201663 0.1701 None gnomAD-3.1.2 6.58E-06
25536 23 G/D 40 rs1021201663 0.1701 None gnomAD-4.0.0 6.57895E-06
25536 23 G/C 40 rs764082866 0.1701 None gnomAD-2.1.1 4.04E-06
25536 23 G/C 40 rs764082866 0.1701 None gnomAD-4.0.0 1.59382E-06
25537 24 R/C 41 rs527631472 0.2938 None 1000 genomes 1.99681E-04
25537 24 R/C 41 rs527631472 0.2938 None gnomAD-2.1.1 8.07E-06
25537 24 R/C 41 rs527631472 0.2938 None gnomAD-3.1.2 1.32E-05
25537 24 R/C 41 rs527631472 0.2938 None gnomAD-4.0.0 3.10092E-06
25537 24 R/G 41 rs527631472 0.2938 None gnomAD-2.1.1 4.04E-06
25537 24 R/G 41 rs527631472 0.2938 None gnomAD-4.0.0 2.05425E-06
25537 24 R/H 41 rs561977468 0.2938 None 1000 genomes 1.99681E-04
25537 24 R/H 41 rs561977468 0.2938 None gnomAD-2.1.1 1.397E-04
25537 24 R/H 41 rs561977468 0.2938 None gnomAD-3.1.2 8.55E-05
25537 24 R/H 41 rs561977468 0.2938 None gnomAD-4.0.0 4.65074E-05
25539 26 T/I 43 rs746337217 0.5039 None gnomAD-2.1.1 8.07E-06
25539 26 T/I 43 rs746337217 0.5039 None gnomAD-4.0.0 2.73857E-06
25540 27 P/L 44 rs541464855 0.1642 None gnomAD-2.1.1 4.03E-06
25540 27 P/L 44 rs541464855 0.1642 None gnomAD-4.0.0 6.84695E-07
25540 27 P/Q 44 rs541464855 0.1642 None 1000 genomes 1.99681E-04
25540 27 P/Q 44 rs541464855 0.1642 None gnomAD-2.1.1 3.19E-05
25540 27 P/Q 44 rs541464855 0.1642 None gnomAD-3.1.2 1.97E-05
25540 27 P/Q 44 rs541464855 0.1642 None gnomAD-4.0.0 4.96085E-06
25541 28 E/G 45 None 0.5987 None gnomAD-4.0.0 1.59406E-06
25542 29 V/I 46 None 0.2561 None gnomAD-2.1.1 8.07E-06
25542 29 V/I 46 None 0.2561 None gnomAD-4.0.0 4.10833E-06
25542 29 V/F 46 rs771230325 0.2561 None gnomAD-3.1.2 6.58E-06
25542 29 V/F 46 rs771230325 0.2561 None gnomAD-4.0.0 1.2403E-06
25543 30 K/R 47 None 0.4142 None gnomAD-4.0.0 1.20033E-06
25543 30 K/E 47 rs372016541 0.4142 None gnomAD-2.1.1 1.43E-05
25543 30 K/E 47 rs372016541 0.4142 None gnomAD-3.1.2 1.97E-05
25543 30 K/E 47 rs372016541 0.4142 None gnomAD-4.0.0 4.34098E-06
25545 32 G/R 49 rs575965326 0.2286 None 1000 genomes 1.99681E-04
25545 32 G/R 49 rs575965326 0.2286 None gnomAD-2.1.1 4.03E-06
25545 32 G/R 49 rs575965326 0.2286 None gnomAD-3.1.2 6.58E-06
25545 32 G/R 49 rs575965326 0.2286 None gnomAD-4.0.0 2.48044E-06
25546 33 K/N 50 None 0.1607 None gnomAD-4.0.0 6.84682E-07
25546 33 K/R 50 None 0.1607 None gnomAD-4.0.0 1.20032E-06
25547 34 V/M 51 rs1429730962 0.5047 None gnomAD-2.1.1 8.06E-06
25547 34 V/M 51 rs1429730962 0.5047 None gnomAD-4.0.0 6.84674E-06
25548 35 D/V 52 None 0.9287 None gnomAD-4.0.0 1.59375E-06
25549 36 G/S 55 rs181166140 0.4087 None 1000 genomes 7.98722E-04
25549 36 G/S 55 rs181166140 0.4087 None gnomAD-2.1.1 3.29308E-04
25549 36 G/S 55 rs181166140 0.4087 None gnomAD-3.1.2 1.13751E-03
25549 36 G/S 55 rs181166140 0.4087 None gnomAD-4.0.0 1.79821E-04
25551 38 I/M 58 None 0.3057 None gnomAD-4.0.0 1.59383E-06
25552 39 R/Q 69 rs779399871 0.2784 None gnomAD-2.1.1 1.21E-05
25552 39 R/Q 69 rs779399871 0.2784 None gnomAD-4.0.0 1.23246E-05
25552 39 R/G 69 rs545954490 0.2784 None gnomAD-2.1.1 3.19E-05
25553 40 D/N 70 rs1246439715 1.1226 None gnomAD-2.1.1 4.03E-06
25553 40 D/N 70 rs1246439715 1.1226 None gnomAD-4.0.0 1.59378E-06
25553 40 D/G 70 rs1197063716 1.1226 None gnomAD-2.1.1 4.03E-06
25553 40 D/G 70 rs1197063716 1.1226 None gnomAD-4.0.0 3.18749E-06
25553 40 D/E 70 rs1453473992 1.1226 None gnomAD-2.1.1 4.03E-06
25554 41 A/G 73 rs879087699 0.4145 None gnomAD-2.1.1 7.16E-06
25554 41 A/G 73 rs879087699 0.4145 None gnomAD-3.1.2 3.29E-05
25554 41 A/G 73 rs879087699 0.4145 None gnomAD-4.0.0 4.34072E-06
25555 42 A/V 102 rs1035031578 0.2094 None gnomAD-2.1.1 3.19E-05
25555 42 A/V 102 rs1035031578 0.2094 None gnomAD-3.1.2 1.32E-05
25555 42 A/V 102 rs1035031578 0.2094 None gnomAD-4.0.0 6.2008E-06
25556 43 I/V 122 rs1707317089 0.6567 None gnomAD-4.0.0 6.846E-06
25557 44 I/T 123 rs758441370 0.3140 None gnomAD-2.1.1 8.07E-06
25557 44 I/T 123 rs758441370 0.3140 None gnomAD-4.0.0 3.42287E-06
25558 45 D/Y 125 rs750336110 0.6132 None gnomAD-2.1.1 1.21E-05
25558 45 D/Y 125 rs750336110 0.6132 None gnomAD-4.0.0 5.47669E-06
25558 45 D/V 125 rs201095164 0.6132 None gnomAD-2.1.1 1.93332E-04
25558 45 D/V 125 rs201095164 0.6132 None gnomAD-3.1.2 1.05201E-04
25558 45 D/V 125 rs201095164 0.6132 None gnomAD-4.0.0 9.11376E-05
25562 49 S/G 134 rs1400963847 0.3680 None gnomAD-2.1.1 3.19E-05
25562 49 S/G 134 rs1400963847 0.3680 None gnomAD-3.1.2 6.57E-06
25562 49 S/G 134 rs1400963847 0.3680 None gnomAD-4.0.0 6.57454E-06
25563 50 F/Y 135 rs1273963065 0.2151 None gnomAD-2.1.1 4.03E-06
25563 50 F/Y 135 rs1273963065 0.2151 None gnomAD-4.0.0 4.77775E-06
25565 52 S/P 137 rs753679035 0.1548 None gnomAD-2.1.1 8.07E-06
25565 52 S/P 137 rs753679035 0.1548 None gnomAD-4.0.0 8.21342E-06
25566 53 L/V 138 rs1332447067 0.0968 None gnomAD-2.1.1 4.03E-06
25566 53 L/V 138 rs1332447067 0.0968 None gnomAD-4.0.0 1.36889E-06
25566 53 L/P 138 rs1323717498 0.0968 None gnomAD-2.1.1 4.03E-06
25566 53 L/P 138 rs1323717498 0.0968 None gnomAD-4.0.0 1.36888E-06
25567 54 V/F 139 rs3813244 0.2118 None 1000 genomes 5.99042E-04
25567 54 V/F 139 rs3813244 0.2118 None gnomAD-2.1.1 2.07653E-04
25567 54 V/F 139 rs3813244 0.2118 None gnomAD-3.1.2 1.18356E-04
25567 54 V/F 139 rs3813244 0.2118 None gnomAD-4.0.0 1.45048E-04
25567 54 V/I 139 None 0.2118 None gnomAD-4.0.0 6.84436E-07
25568 55 L/P 140 None 0.1252 None gnomAD-4.0.0 1.36885E-06
25569 56 D/H 141 None 0.5781 None gnomAD-4.0.0 1.5924E-06
25569 56 D/E 141 rs1002726225 0.5781 None gnomAD-4.0.0 2.73767E-06
25570 57 N/K 143 None 0.6849 None gnomAD-4.0.0 1.59235E-06
25570 57 N/S 143 None 0.6849 None gnomAD-4.0.0 1.59235E-06
25571 58 V/I 144 rs760782774 0.0961 None gnomAD-2.1.1 4.03E-06
25573 60 R/Q 146 rs760052770 0.6339 None gnomAD-2.1.1 1.21E-05
25573 60 R/Q 146 rs760052770 0.6339 None gnomAD-3.1.2 3.29E-05
25573 60 R/Q 146 rs760052770 0.6339 None gnomAD-4.0.0 1.85967E-05
25573 60 R/L 146 rs760052770 0.6339 None gnomAD-3.1.2 6.58E-06
25573 60 R/L 146 rs760052770 0.6339 None gnomAD-4.0.0 6.57609E-06
25574 61 Y/F 148 rs1199417769 0.7535 None gnomAD-3.1.2 6.58E-06
25574 61 Y/F 148 rs1199417769 0.7535 None gnomAD-4.0.0 6.57549E-06
25574 61 Y/H 148 rs3813245 0.7535 None 1000 genomes 2.23642E-02
25574 61 Y/H 148 rs3813245 0.7535 None gnomAD-2.1.1 2.57529E-02
25574 61 Y/H 148 rs3813245 0.7535 None gnomAD-3.1.2 2.02286E-02
25574 61 Y/H 148 rs3813245 0.7535 None gnomAD-4.0.0 2.29074E-02
25575 62 D/N 149 rs749711979 0.1627 None gnomAD-2.1.1 1.07E-05
25575 62 D/N 149 rs749711979 0.1627 None gnomAD-3.1.2 1.97E-05
25575 62 D/N 149 rs749711979 0.1627 None gnomAD-4.0.0 4.33919E-06
25576 63 S/N 151 rs1184700085 0.2338 None gnomAD-3.1.2 6.58E-06
25576 63 S/N 151 rs1184700085 0.2338 None gnomAD-4.0.0 6.57678E-06
25576 63 S/R 151 None 0.2338 None gnomAD-4.0.0 1.59225E-06
25576 63 S/T 151 None 0.2338 None gnomAD-4.0.0 1.32035E-05
25577 64 G/R 152 rs1482128356 0.2546 None gnomAD-2.1.1 4.03E-06
25579 66 Y/C 154 rs1707280961 0.1640 None gnomAD-3.1.2 6.58E-06
25579 66 Y/C 154 rs1707280961 0.1640 None gnomAD-4.0.0 5.07512E-06
25579 66 Y/H 154 rs1254023475 0.1640 None gnomAD-2.1.1 4.03E-06
25579 66 Y/H 154 rs1254023475 0.1640 None gnomAD-4.0.0 1.36877E-06
25580 67 T/R 155 None 0.2593 None gnomAD-4.0.0 6.84389E-07
25580 67 T/M 155 rs56372592 0.2593 None 1000 genomes 4.59265E-03
25580 67 T/M 155 rs56372592 0.2593 None gnomAD-2.1.1 1.61769E-03
25580 67 T/M 155 rs56372592 0.2593 None gnomAD-3.1.2 9.3394E-04
25580 67 T/M 155 rs56372592 0.2593 None gnomAD-4.0.0 5.79551E-04
25580 67 T/K 155 rs56372592 0.2593 None gnomAD-2.1.1 2.11159E-04
25580 67 T/K 155 rs56372592 0.2593 None gnomAD-3.1.2 2.36774E-04
25580 67 T/K 155 rs56372592 0.2593 None gnomAD-4.0.0 6.51499E-04
25580 67 T/A 155 rs371711135 0.2593 None gnomAD-2.1.1 2.15E-05
25580 67 T/A 155 rs371711135 0.2593 None gnomAD-3.1.2 9.86E-05
25580 67 T/A 155 rs371711135 0.2593 None gnomAD-4.0.0 1.6736E-05
25584 71 E/K 159 rs1217257725 0.4188 None gnomAD-2.1.1 4.03E-06
25584 71 E/K 159 rs1217257725 0.4188 None gnomAD-4.0.0 2.73746E-06
25585 72 N/K 161 rs1171173179 0.1258 None gnomAD-2.1.1 3.19E-05
25585 72 N/K 161 rs1171173179 0.1258 None gnomAD-3.1.2 1.97E-05
25585 72 N/K 161 rs1171173179 0.1258 None gnomAD-4.0.0 1.20032E-06
25586 73 S/R 162 rs757243379 0.6947 None gnomAD-2.1.1 2.86E-05
25586 73 S/R 162 rs757243379 0.6947 None gnomAD-3.1.2 6.58E-06
25586 73 S/R 162 rs757243379 0.6947 None gnomAD-4.0.0 2.47934E-06
25586 73 S/I 162 None 0.6947 None gnomAD-4.0.0 1.20032E-06
25586 73 S/G 162 rs757243379 0.6947 None gnomAD-2.1.1 8.06E-06
25586 73 S/G 162 rs757243379 0.6947 None gnomAD-4.0.0 5.47488E-06
25587 74 S/N 163 None 0.3309 None gnomAD-4.0.0 1.20033E-06
25588 75 G/R 164 rs1275050402 0.2371 None gnomAD-2.1.1 4.03E-06
25588 75 G/R 164 rs1275050402 0.2371 None gnomAD-3.1.2 6.58E-06
25588 75 G/R 164 rs1275050402 0.2371 None gnomAD-4.0.0 2.5636E-06
25589 76 T/A 165 rs794729499 0.5045 None gnomAD-2.1.1 4.03E-06
25589 76 T/A 165 rs794729499 0.5045 None gnomAD-3.1.2 6.57E-06
25589 76 T/A 165 rs794729499 0.5045 None gnomAD-4.0.0 3.71902E-06
25590 77 K/N 166 rs1707266415 0.2771 None gnomAD-3.1.2 6.57E-06
25590 77 K/N 166 rs1707266415 0.2771 None gnomAD-4.0.0 6.57497E-06
25590 77 K/R 166 rs1348119178 0.2771 None gnomAD-2.1.1 4.03E-06
25590 77 K/R 166 rs1348119178 0.2771 None gnomAD-4.0.0 1.59207E-06
25592 79 A/V 169 rs1707265300 0.2892 None gnomAD-4.0.0 1.59217E-06
25592 79 A/T 169 None 0.2892 None gnomAD-4.0.0 3.18432E-06
25593 80 F/Y 171 rs547186080 0.5780 None gnomAD-2.1.1 7.15E-06
25593 80 F/Y 171 rs547186080 0.5780 None gnomAD-3.1.2 1.31E-05
25593 80 F/Y 171 rs547186080 0.5780 None gnomAD-4.0.0 8.0579E-06
25598 85 V/I 177 rs763761448 0.1570 None gnomAD-2.1.1 8.06E-06
25598 85 V/I 177 rs763761448 0.1570 None gnomAD-4.0.0 1.59212E-06