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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
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 1.0051 None gnomAD-3.1.2 6.58E-06
25514 1 L/P 1 rs1553601755 1.0051 None gnomAD-4.0.0 6.57687E-06
25514 1 L/V 1 None 1.0051 None gnomAD-4.0.0 1.59377E-06
25515 2 E/K 2 rs755797898 0.5589 None gnomAD-2.1.1 8.12E-06
25516 3 L/I 3 rs752300467 0.4309 None gnomAD-2.1.1 1.22E-05
25516 3 L/I 3 rs752300467 0.4309 None gnomAD-3.1.2 6.58E-06
25516 3 L/I 3 rs752300467 0.4309 None gnomAD-4.0.0 6.20099E-06
25517 4 R/G 8 rs780584058 0.7123 None gnomAD-4.0.0 2.05375E-06
25518 5 K/R 9 None 0.4627 None gnomAD-4.0.0 1.20033E-06
25519 6 I/T 11 rs376185524 0.5138 None 1000 genomes 1.99681E-04
25519 6 I/T 11 rs376185524 0.5138 None gnomAD-2.1.1 4.86E-05
25519 6 I/T 11 rs376185524 0.5138 None gnomAD-3.1.2 1.97E-05
25519 6 I/T 11 rs376185524 0.5138 None gnomAD-4.0.0 2.41808E-05
25519 6 I/N 11 rs376185524 0.5138 None gnomAD-4.0.0 2.05366E-06
25520 7 I/T 13 rs1553601714 0.2414 None gnomAD-4.0.0 1.36904E-06
25522 9 I/T 16 rs372963832 0.1776 None gnomAD-2.1.1 4.04E-06
25522 9 I/T 16 rs372963832 0.1776 None gnomAD-3.1.2 1.32E-05
25522 9 I/T 16 rs372963832 0.1776 None gnomAD-4.0.0 1.67399E-05
25522 9 I/V 16 rs1403999176 0.1776 None gnomAD-3.1.2 1.97E-05
25522 9 I/V 16 rs1403999176 0.1776 None gnomAD-4.0.0 5.12934E-06
25523 10 R/S 18 None 0.6532 None gnomAD-4.0.0 6.84503E-07
25524 11 A/T 23 rs766397845 0.3717 None gnomAD-2.1.1 4.04E-06
25525 12 G/V 24 rs1428374737 0.3828 None gnomAD-3.1.2 6.58E-06
25525 12 G/V 24 rs1428374737 0.3828 None gnomAD-4.0.0 6.57869E-06
25525 12 G/S 24 None 0.3828 None gnomAD-4.0.0 1.59282E-06
25525 12 G/D 24 rs1428374737 0.3828 None gnomAD-2.1.1 4.04E-06
25525 12 G/D 24 rs1428374737 0.3828 None gnomAD-4.0.0 1.5928E-06
25526 13 G/V 25 None 0.2287 None gnomAD-4.0.0 6.8455E-07
25526 13 G/S 25 rs1246585720 0.2287 None gnomAD-2.1.1 4.04E-06
25526 13 G/S 25 rs1246585720 0.2287 None gnomAD-4.0.0 1.59277E-06
25526 13 G/D 25 rs369344156 0.2287 None gnomAD-2.1.1 3.19E-05
25526 13 G/D 25 rs369344156 0.2287 None gnomAD-3.1.2 1.32E-05
25526 13 G/D 25 rs369344156 0.2287 None gnomAD-4.0.0 1.92212E-05
25526 13 G/A 25 None 0.2287 None gnomAD-4.0.0 6.8455E-07
25529 16 R/K 29 rs750282861 0.6124 None gnomAD-2.1.1 2.42E-05
25529 16 R/K 29 rs750282861 0.6124 None gnomAD-4.0.0 4.10715E-06
25530 17 L/S 30 rs1465564864 0.1515 None gnomAD-2.1.1 4.04E-06
25530 17 L/S 30 rs1465564864 0.1515 None gnomAD-3.1.2 6.58E-06
25530 17 L/S 30 rs1465564864 0.1515 None gnomAD-4.0.0 1.86024E-06
25530 17 L/F 30 rs184034300 0.1515 None 1000 genomes 1.99681E-04
25530 17 L/F 30 rs184034300 0.1515 None gnomAD-2.1.1 1.79143E-04
25530 17 L/F 30 rs184034300 0.1515 None gnomAD-3.1.2 1.38167E-04
25530 17 L/F 30 rs184034300 0.1515 None gnomAD-4.0.0 6.84613E-07
25531 18 F/I 31 rs878933531 0.3957 None gnomAD-4.0.0 3.60097E-06
25531 18 F/S 31 rs976954474 0.3957 None gnomAD-2.1.1 7.16E-06
25531 18 F/S 31 rs976954474 0.3957 None gnomAD-3.1.2 1.32E-05
25531 18 F/S 31 rs976954474 0.3957 None gnomAD-4.0.0 3.10039E-06
25532 19 V/A 33 rs55984930 0.2398 None gnomAD-2.1.1 2.83E-05
25532 19 V/A 33 rs55984930 0.2398 None gnomAD-4.0.0 7.5315E-06
25532 19 V/F 33 rs1358589426 0.2398 None gnomAD-2.1.1 4.04E-06
25532 19 V/F 33 rs1358589426 0.2398 None gnomAD-4.0.0 2.73847E-06
25532 19 V/L 33 None 0.2398 None gnomAD-4.0.0 6.84618E-07
25533 20 P/S 34 rs1707347772 0.4749 None gnomAD-4.0.0 3.60097E-06
25534 21 I/V 35 rs1245433477 0.1327 None gnomAD-2.1.1 4.04E-06
25534 21 I/V 35 rs1245433477 0.1327 None gnomAD-4.0.0 6.84689E-07
25534 21 I/L 35 rs1245433477 0.1327 None gnomAD-2.1.1 4.04E-06
25534 21 I/L 35 rs1245433477 0.1327 None gnomAD-4.0.0 6.84689E-07
25536 23 G/V 40 rs1021201663 0.3711 None gnomAD-4.0.0 1.59386E-06
25536 23 G/D 40 rs1021201663 0.3711 None gnomAD-3.1.2 6.58E-06
25536 23 G/D 40 rs1021201663 0.3711 None gnomAD-4.0.0 6.57895E-06
25536 23 G/C 40 rs764082866 0.3711 None gnomAD-2.1.1 4.04E-06
25536 23 G/C 40 rs764082866 0.3711 None gnomAD-4.0.0 1.59382E-06
25537 24 R/C 41 rs527631472 0.9139 None 1000 genomes 1.99681E-04
25537 24 R/C 41 rs527631472 0.9139 None gnomAD-2.1.1 8.07E-06
25537 24 R/C 41 rs527631472 0.9139 None gnomAD-3.1.2 1.32E-05
25537 24 R/C 41 rs527631472 0.9139 None gnomAD-4.0.0 3.10092E-06
25537 24 R/G 41 rs527631472 0.9139 None gnomAD-2.1.1 4.04E-06
25537 24 R/G 41 rs527631472 0.9139 None gnomAD-4.0.0 2.05425E-06
25537 24 R/H 41 rs561977468 0.9139 None 1000 genomes 1.99681E-04
25537 24 R/H 41 rs561977468 0.9139 None gnomAD-2.1.1 1.397E-04
25537 24 R/H 41 rs561977468 0.9139 None gnomAD-3.1.2 8.55E-05
25537 24 R/H 41 rs561977468 0.9139 None gnomAD-4.0.0 4.65074E-05
25539 26 T/I 43 rs746337217 0.5204 None gnomAD-2.1.1 8.07E-06
25539 26 T/I 43 rs746337217 0.5204 None gnomAD-4.0.0 2.73857E-06
25540 27 P/L 44 rs541464855 0.1907 None gnomAD-2.1.1 4.03E-06
25540 27 P/L 44 rs541464855 0.1907 None gnomAD-4.0.0 6.84695E-07
25540 27 P/Q 44 rs541464855 0.1907 None 1000 genomes 1.99681E-04
25540 27 P/Q 44 rs541464855 0.1907 None gnomAD-2.1.1 3.19E-05
25540 27 P/Q 44 rs541464855 0.1907 None gnomAD-3.1.2 1.97E-05
25540 27 P/Q 44 rs541464855 0.1907 None gnomAD-4.0.0 4.96085E-06
25541 28 E/G 45 None 0.8054 None gnomAD-4.0.0 1.59406E-06
25542 29 V/I 46 None 0.2710 None gnomAD-2.1.1 8.07E-06
25542 29 V/I 46 None 0.2710 None gnomAD-4.0.0 4.10833E-06
25542 29 V/F 46 rs771230325 0.2710 None gnomAD-3.1.2 6.58E-06
25542 29 V/F 46 rs771230325 0.2710 None gnomAD-4.0.0 1.2403E-06
25543 30 K/R 47 None 0.7697 None gnomAD-4.0.0 1.20033E-06
25543 30 K/E 47 rs372016541 0.7697 None gnomAD-2.1.1 1.43E-05
25543 30 K/E 47 rs372016541 0.7697 None gnomAD-3.1.2 1.97E-05
25543 30 K/E 47 rs372016541 0.7697 None gnomAD-4.0.0 4.34098E-06
25545 32 G/R 49 rs575965326 0.2190 None 1000 genomes 1.99681E-04
25545 32 G/R 49 rs575965326 0.2190 None gnomAD-2.1.1 4.03E-06
25545 32 G/R 49 rs575965326 0.2190 None gnomAD-3.1.2 6.58E-06
25545 32 G/R 49 rs575965326 0.2190 None gnomAD-4.0.0 2.48044E-06
25546 33 K/N 50 None 0.1478 None gnomAD-4.0.0 6.84682E-07
25546 33 K/R 50 None 0.1478 None gnomAD-4.0.0 1.20032E-06
25547 34 V/M 51 rs1429730962 0.5163 None gnomAD-2.1.1 8.06E-06
25547 34 V/M 51 rs1429730962 0.5163 None gnomAD-4.0.0 6.84674E-06
25548 35 D/V 52 None 0.9344 None gnomAD-4.0.0 1.59375E-06
25549 36 G/S 55 rs181166140 0.3946 None 1000 genomes 7.98722E-04
25549 36 G/S 55 rs181166140 0.3946 None gnomAD-2.1.1 3.29308E-04
25549 36 G/S 55 rs181166140 0.3946 None gnomAD-3.1.2 1.13751E-03
25549 36 G/S 55 rs181166140 0.3946 None gnomAD-4.0.0 1.79821E-04
25551 38 I/M 58 None 0.2525 None gnomAD-4.0.0 1.59383E-06
25552 39 R/Q 69 rs779399871 0.3509 None gnomAD-2.1.1 1.21E-05
25552 39 R/Q 69 rs779399871 0.3509 None gnomAD-4.0.0 1.23246E-05
25552 39 R/G 69 rs545954490 0.3509 None gnomAD-2.1.1 3.19E-05
25553 40 D/N 70 rs1246439715 1.1196 None gnomAD-2.1.1 4.03E-06
25553 40 D/N 70 rs1246439715 1.1196 None gnomAD-4.0.0 1.59378E-06
25553 40 D/G 70 rs1197063716 1.1196 None gnomAD-2.1.1 4.03E-06
25553 40 D/G 70 rs1197063716 1.1196 None gnomAD-4.0.0 3.18749E-06
25553 40 D/E 70 rs1453473992 1.1196 None gnomAD-2.1.1 4.03E-06
25554 41 A/G 73 rs879087699 0.4344 None gnomAD-2.1.1 7.16E-06
25554 41 A/G 73 rs879087699 0.4344 None gnomAD-3.1.2 3.29E-05
25554 41 A/G 73 rs879087699 0.4344 None gnomAD-4.0.0 4.34072E-06
25555 42 A/V 102 rs1035031578 0.1758 None gnomAD-2.1.1 3.19E-05
25555 42 A/V 102 rs1035031578 0.1758 None gnomAD-3.1.2 1.32E-05
25555 42 A/V 102 rs1035031578 0.1758 None gnomAD-4.0.0 6.2008E-06
25556 43 I/V 122 rs1707317089 0.6652 None gnomAD-4.0.0 6.846E-06
25557 44 I/T 123 rs758441370 0.3119 None gnomAD-2.1.1 8.07E-06
25557 44 I/T 123 rs758441370 0.3119 None gnomAD-4.0.0 3.42287E-06
25558 45 D/Y 125 rs750336110 0.6138 None gnomAD-2.1.1 1.21E-05
25558 45 D/Y 125 rs750336110 0.6138 None gnomAD-4.0.0 5.47669E-06
25558 45 D/V 125 rs201095164 0.6138 None gnomAD-2.1.1 1.93332E-04
25558 45 D/V 125 rs201095164 0.6138 None gnomAD-3.1.2 1.05201E-04
25558 45 D/V 125 rs201095164 0.6138 None gnomAD-4.0.0 9.11376E-05
25562 49 S/G 134 rs1400963847 0.3645 None gnomAD-2.1.1 3.19E-05
25562 49 S/G 134 rs1400963847 0.3645 None gnomAD-3.1.2 6.57E-06
25562 49 S/G 134 rs1400963847 0.3645 None gnomAD-4.0.0 6.57454E-06
25563 50 F/Y 135 rs1273963065 0.2246 None gnomAD-2.1.1 4.03E-06
25563 50 F/Y 135 rs1273963065 0.2246 None gnomAD-4.0.0 4.77775E-06
25565 52 S/P 137 rs753679035 0.1609 None gnomAD-2.1.1 8.07E-06
25565 52 S/P 137 rs753679035 0.1609 None gnomAD-4.0.0 8.21342E-06
25566 53 L/V 138 rs1332447067 0.0954 None gnomAD-2.1.1 4.03E-06
25566 53 L/V 138 rs1332447067 0.0954 None gnomAD-4.0.0 1.36889E-06
25566 53 L/P 138 rs1323717498 0.0954 None gnomAD-2.1.1 4.03E-06
25566 53 L/P 138 rs1323717498 0.0954 None gnomAD-4.0.0 1.36888E-06
25567 54 V/F 139 rs3813244 0.2420 None 1000 genomes 5.99042E-04
25567 54 V/F 139 rs3813244 0.2420 None gnomAD-2.1.1 2.07653E-04
25567 54 V/F 139 rs3813244 0.2420 None gnomAD-3.1.2 1.18356E-04
25567 54 V/F 139 rs3813244 0.2420 None gnomAD-4.0.0 1.45048E-04
25567 54 V/I 139 None 0.2420 None gnomAD-4.0.0 6.84436E-07
25568 55 L/P 140 None 0.1307 None gnomAD-4.0.0 1.36885E-06
25569 56 D/H 141 None 0.6058 None gnomAD-4.0.0 1.5924E-06
25569 56 D/E 141 rs1002726225 0.6058 None gnomAD-4.0.0 2.73767E-06
25570 57 N/K 143 None 0.7395 None gnomAD-4.0.0 1.59235E-06
25570 57 N/S 143 None 0.7395 None gnomAD-4.0.0 1.59235E-06
25571 58 V/I 144 rs760782774 0.0948 None gnomAD-2.1.1 4.03E-06
25573 60 R/Q 146 rs760052770 0.6116 None gnomAD-2.1.1 1.21E-05
25573 60 R/Q 146 rs760052770 0.6116 None gnomAD-3.1.2 3.29E-05
25573 60 R/Q 146 rs760052770 0.6116 None gnomAD-4.0.0 1.85967E-05
25573 60 R/L 146 rs760052770 0.6116 None gnomAD-3.1.2 6.58E-06
25573 60 R/L 146 rs760052770 0.6116 None gnomAD-4.0.0 6.57609E-06
25574 61 Y/F 148 rs1199417769 0.7325 None gnomAD-3.1.2 6.58E-06
25574 61 Y/F 148 rs1199417769 0.7325 None gnomAD-4.0.0 6.57549E-06
25574 61 Y/H 148 rs3813245 0.7325 None 1000 genomes 2.23642E-02
25574 61 Y/H 148 rs3813245 0.7325 None gnomAD-2.1.1 2.57529E-02
25574 61 Y/H 148 rs3813245 0.7325 None gnomAD-3.1.2 2.02286E-02
25574 61 Y/H 148 rs3813245 0.7325 None gnomAD-4.0.0 2.29074E-02
25575 62 D/N 149 rs749711979 0.1385 None gnomAD-2.1.1 1.07E-05
25575 62 D/N 149 rs749711979 0.1385 None gnomAD-3.1.2 1.97E-05
25575 62 D/N 149 rs749711979 0.1385 None gnomAD-4.0.0 4.33919E-06
25576 63 S/N 151 rs1184700085 0.2270 None gnomAD-3.1.2 6.58E-06
25576 63 S/N 151 rs1184700085 0.2270 None gnomAD-4.0.0 6.57678E-06
25576 63 S/R 151 None 0.2270 None gnomAD-4.0.0 1.59225E-06
25576 63 S/T 151 None 0.2270 None gnomAD-4.0.0 1.32035E-05
25577 64 G/R 152 rs1482128356 0.2408 None gnomAD-2.1.1 4.03E-06
25579 66 Y/C 154 rs1707280961 0.1471 None gnomAD-3.1.2 6.58E-06
25579 66 Y/C 154 rs1707280961 0.1471 None gnomAD-4.0.0 5.07512E-06
25579 66 Y/H 154 rs1254023475 0.1471 None gnomAD-2.1.1 4.03E-06
25579 66 Y/H 154 rs1254023475 0.1471 None gnomAD-4.0.0 1.36877E-06
25580 67 T/R 155 None 0.2476 None gnomAD-4.0.0 6.84389E-07
25580 67 T/M 155 rs56372592 0.2476 None 1000 genomes 4.59265E-03
25580 67 T/M 155 rs56372592 0.2476 None gnomAD-2.1.1 1.61769E-03
25580 67 T/M 155 rs56372592 0.2476 None gnomAD-3.1.2 9.3394E-04
25580 67 T/M 155 rs56372592 0.2476 None gnomAD-4.0.0 5.79551E-04
25580 67 T/K 155 rs56372592 0.2476 None gnomAD-2.1.1 2.11159E-04
25580 67 T/K 155 rs56372592 0.2476 None gnomAD-3.1.2 2.36774E-04
25580 67 T/K 155 rs56372592 0.2476 None gnomAD-4.0.0 6.51499E-04
25580 67 T/A 155 rs371711135 0.2476 None gnomAD-2.1.1 2.15E-05
25580 67 T/A 155 rs371711135 0.2476 None gnomAD-3.1.2 9.86E-05
25580 67 T/A 155 rs371711135 0.2476 None gnomAD-4.0.0 1.6736E-05
25584 71 E/K 159 rs1217257725 0.5583 None gnomAD-2.1.1 4.03E-06
25584 71 E/K 159 rs1217257725 0.5583 None gnomAD-4.0.0 2.73746E-06
25585 72 N/K 161 rs1171173179 0.1852 None gnomAD-2.1.1 3.19E-05
25585 72 N/K 161 rs1171173179 0.1852 None gnomAD-3.1.2 1.97E-05
25585 72 N/K 161 rs1171173179 0.1852 None gnomAD-4.0.0 1.20032E-06
25586 73 S/R 162 rs757243379 0.6665 None gnomAD-2.1.1 2.86E-05
25586 73 S/R 162 rs757243379 0.6665 None gnomAD-3.1.2 6.58E-06
25586 73 S/R 162 rs757243379 0.6665 None gnomAD-4.0.0 2.47934E-06
25586 73 S/I 162 None 0.6665 None gnomAD-4.0.0 1.20032E-06
25586 73 S/G 162 rs757243379 0.6665 None gnomAD-2.1.1 8.06E-06
25586 73 S/G 162 rs757243379 0.6665 None gnomAD-4.0.0 5.47488E-06
25587 74 S/N 163 None 0.6633 None gnomAD-4.0.0 1.20033E-06
25588 75 G/R 164 rs1275050402 0.3470 None gnomAD-2.1.1 4.03E-06
25588 75 G/R 164 rs1275050402 0.3470 None gnomAD-3.1.2 6.58E-06
25588 75 G/R 164 rs1275050402 0.3470 None gnomAD-4.0.0 2.5636E-06
25589 76 T/A 165 rs794729499 0.5190 None gnomAD-2.1.1 4.03E-06
25589 76 T/A 165 rs794729499 0.5190 None gnomAD-3.1.2 6.57E-06
25589 76 T/A 165 rs794729499 0.5190 None gnomAD-4.0.0 3.71902E-06
25590 77 K/N 166 rs1707266415 0.8405 None gnomAD-3.1.2 6.57E-06
25590 77 K/N 166 rs1707266415 0.8405 None gnomAD-4.0.0 6.57497E-06
25590 77 K/R 166 rs1348119178 0.8405 None gnomAD-2.1.1 4.03E-06
25590 77 K/R 166 rs1348119178 0.8405 None gnomAD-4.0.0 1.59207E-06
25592 79 A/V 169 rs1707265300 0.4443 None gnomAD-4.0.0 1.59217E-06
25592 79 A/T 169 None 0.4443 None gnomAD-4.0.0 3.18432E-06
25593 80 F/Y 171 rs547186080 0.5810 None gnomAD-2.1.1 7.15E-06
25593 80 F/Y 171 rs547186080 0.5810 None gnomAD-3.1.2 1.31E-05
25593 80 F/Y 171 rs547186080 0.5810 None gnomAD-4.0.0 8.0579E-06
25598 85 V/I 177 rs763761448 0.1542 None gnomAD-2.1.1 8.06E-06
25598 85 V/I 177 rs763761448 0.1542 None gnomAD-4.0.0 1.59212E-06