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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 D T P S P P V N L K V T E I T K D S V S I T W E P P L L D G G S K I K N Y I V E K R E A T R K S Y A A V V T N C H K N S W K I D Q L Q E G C S Y Y F R V T A E N E Y G I G L P A Q T A D P I K V A E V
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 1.0670 None gnomAD-3.1.2 6.58E-06
25514 1 L/P 1 rs1553601755 1.0670 None gnomAD-4.0.0 6.57687E-06
25514 1 L/V 1 None 1.0670 None gnomAD-4.0.0 1.59377E-06
25515 2 E/K 2 rs755797898 0.4986 None gnomAD-2.1.1 8.12E-06
25516 3 L/I 3 rs752300467 0.4426 None gnomAD-2.1.1 1.22E-05
25516 3 L/I 3 rs752300467 0.4426 None gnomAD-3.1.2 6.58E-06
25516 3 L/I 3 rs752300467 0.4426 None gnomAD-4.0.0 6.20099E-06
25517 4 R/G 8 rs780584058 0.8181 None gnomAD-4.0.0 2.05375E-06
25518 5 K/R 9 None 0.3597 None gnomAD-4.0.0 1.20033E-06
25519 6 I/T 11 rs376185524 0.4419 None 1000 genomes 1.99681E-04
25519 6 I/T 11 rs376185524 0.4419 None gnomAD-2.1.1 4.86E-05
25519 6 I/T 11 rs376185524 0.4419 None gnomAD-3.1.2 1.97E-05
25519 6 I/T 11 rs376185524 0.4419 None gnomAD-4.0.0 2.41808E-05
25519 6 I/N 11 rs376185524 0.4419 None gnomAD-4.0.0 2.05366E-06
25520 7 I/T 13 rs1553601714 0.2381 None gnomAD-4.0.0 1.36904E-06
25522 9 I/T 16 rs372963832 0.1856 None gnomAD-2.1.1 4.04E-06
25522 9 I/T 16 rs372963832 0.1856 None gnomAD-3.1.2 1.32E-05
25522 9 I/T 16 rs372963832 0.1856 None gnomAD-4.0.0 1.67399E-05
25522 9 I/V 16 rs1403999176 0.1856 None gnomAD-3.1.2 1.97E-05
25522 9 I/V 16 rs1403999176 0.1856 None gnomAD-4.0.0 5.12934E-06
25523 10 R/S 18 None 0.5931 None gnomAD-4.0.0 6.84503E-07
25524 11 A/T 23 rs766397845 0.2794 None gnomAD-2.1.1 4.04E-06
25525 12 G/V 24 rs1428374737 0.3986 None gnomAD-3.1.2 6.58E-06
25525 12 G/V 24 rs1428374737 0.3986 None gnomAD-4.0.0 6.57869E-06
25525 12 G/S 24 None 0.3986 None gnomAD-4.0.0 1.59282E-06
25525 12 G/D 24 rs1428374737 0.3986 None gnomAD-2.1.1 4.04E-06
25525 12 G/D 24 rs1428374737 0.3986 None gnomAD-4.0.0 1.5928E-06
25526 13 G/V 25 None 0.2402 None gnomAD-4.0.0 6.8455E-07
25526 13 G/S 25 rs1246585720 0.2402 None gnomAD-2.1.1 4.04E-06
25526 13 G/S 25 rs1246585720 0.2402 None gnomAD-4.0.0 1.59277E-06
25526 13 G/D 25 rs369344156 0.2402 None gnomAD-2.1.1 3.19E-05
25526 13 G/D 25 rs369344156 0.2402 None gnomAD-3.1.2 1.32E-05
25526 13 G/D 25 rs369344156 0.2402 None gnomAD-4.0.0 1.92212E-05
25526 13 G/A 25 None 0.2402 None gnomAD-4.0.0 6.8455E-07
25529 16 R/K 29 rs750282861 0.5518 None gnomAD-2.1.1 2.42E-05
25529 16 R/K 29 rs750282861 0.5518 None gnomAD-4.0.0 4.10715E-06
25530 17 L/S 30 rs1465564864 0.1704 None gnomAD-2.1.1 4.04E-06
25530 17 L/S 30 rs1465564864 0.1704 None gnomAD-3.1.2 6.58E-06
25530 17 L/S 30 rs1465564864 0.1704 None gnomAD-4.0.0 1.86024E-06
25530 17 L/F 30 rs184034300 0.1704 None 1000 genomes 1.99681E-04
25530 17 L/F 30 rs184034300 0.1704 None gnomAD-2.1.1 1.79143E-04
25530 17 L/F 30 rs184034300 0.1704 None gnomAD-3.1.2 1.38167E-04
25530 17 L/F 30 rs184034300 0.1704 None gnomAD-4.0.0 6.84613E-07
25531 18 F/I 31 rs878933531 0.3772 None gnomAD-4.0.0 3.60097E-06
25531 18 F/S 31 rs976954474 0.3772 None gnomAD-2.1.1 7.16E-06
25531 18 F/S 31 rs976954474 0.3772 None gnomAD-3.1.2 1.32E-05
25531 18 F/S 31 rs976954474 0.3772 None gnomAD-4.0.0 3.10039E-06
25532 19 V/A 33 rs55984930 0.2717 None gnomAD-2.1.1 2.83E-05
25532 19 V/A 33 rs55984930 0.2717 None gnomAD-4.0.0 7.5315E-06
25532 19 V/F 33 rs1358589426 0.2717 None gnomAD-2.1.1 4.04E-06
25532 19 V/F 33 rs1358589426 0.2717 None gnomAD-4.0.0 2.73847E-06
25532 19 V/L 33 None 0.2717 None gnomAD-4.0.0 6.84618E-07
25533 20 P/S 34 rs1707347772 0.4803 None gnomAD-4.0.0 3.60097E-06
25534 21 I/V 35 rs1245433477 0.1448 None gnomAD-2.1.1 4.04E-06
25534 21 I/V 35 rs1245433477 0.1448 None gnomAD-4.0.0 6.84689E-07
25534 21 I/L 35 rs1245433477 0.1448 None gnomAD-2.1.1 4.04E-06
25534 21 I/L 35 rs1245433477 0.1448 None gnomAD-4.0.0 6.84689E-07
25536 23 G/V 40 rs1021201663 0.4378 None gnomAD-4.0.0 1.59386E-06
25536 23 G/D 40 rs1021201663 0.4378 None gnomAD-3.1.2 6.58E-06
25536 23 G/D 40 rs1021201663 0.4378 None gnomAD-4.0.0 6.57895E-06
25536 23 G/C 40 rs764082866 0.4378 None gnomAD-2.1.1 4.04E-06
25536 23 G/C 40 rs764082866 0.4378 None gnomAD-4.0.0 1.59382E-06
25537 24 R/C 41 rs527631472 1.0263 None 1000 genomes 1.99681E-04
25537 24 R/C 41 rs527631472 1.0263 None gnomAD-2.1.1 8.07E-06
25537 24 R/C 41 rs527631472 1.0263 None gnomAD-3.1.2 1.32E-05
25537 24 R/C 41 rs527631472 1.0263 None gnomAD-4.0.0 3.10092E-06
25537 24 R/G 41 rs527631472 1.0263 None gnomAD-2.1.1 4.04E-06
25537 24 R/G 41 rs527631472 1.0263 None gnomAD-4.0.0 2.05425E-06
25537 24 R/H 41 rs561977468 1.0263 None 1000 genomes 1.99681E-04
25537 24 R/H 41 rs561977468 1.0263 None gnomAD-2.1.1 1.397E-04
25537 24 R/H 41 rs561977468 1.0263 None gnomAD-3.1.2 8.55E-05
25537 24 R/H 41 rs561977468 1.0263 None gnomAD-4.0.0 4.65074E-05
25539 26 T/I 43 rs746337217 0.5340 None gnomAD-2.1.1 8.07E-06
25539 26 T/I 43 rs746337217 0.5340 None gnomAD-4.0.0 2.73857E-06
25540 27 P/L 44 rs541464855 0.2273 None gnomAD-2.1.1 4.03E-06
25540 27 P/L 44 rs541464855 0.2273 None gnomAD-4.0.0 6.84695E-07
25540 27 P/Q 44 rs541464855 0.2273 None 1000 genomes 1.99681E-04
25540 27 P/Q 44 rs541464855 0.2273 None gnomAD-2.1.1 3.19E-05
25540 27 P/Q 44 rs541464855 0.2273 None gnomAD-3.1.2 1.97E-05
25540 27 P/Q 44 rs541464855 0.2273 None gnomAD-4.0.0 4.96085E-06
25541 28 E/G 45 None 0.7024 None gnomAD-4.0.0 1.59406E-06
25542 29 V/I 46 None 0.2739 None gnomAD-2.1.1 8.07E-06
25542 29 V/I 46 None 0.2739 None gnomAD-4.0.0 4.10833E-06
25542 29 V/F 46 rs771230325 0.2739 None gnomAD-3.1.2 6.58E-06
25542 29 V/F 46 rs771230325 0.2739 None gnomAD-4.0.0 1.2403E-06
25543 30 K/R 47 None 0.5199 None gnomAD-4.0.0 1.20033E-06
25543 30 K/E 47 rs372016541 0.5199 None gnomAD-2.1.1 1.43E-05
25543 30 K/E 47 rs372016541 0.5199 None gnomAD-3.1.2 1.97E-05
25543 30 K/E 47 rs372016541 0.5199 None gnomAD-4.0.0 4.34098E-06
25545 32 G/R 49 rs575965326 0.2567 None 1000 genomes 1.99681E-04
25545 32 G/R 49 rs575965326 0.2567 None gnomAD-2.1.1 4.03E-06
25545 32 G/R 49 rs575965326 0.2567 None gnomAD-3.1.2 6.58E-06
25545 32 G/R 49 rs575965326 0.2567 None gnomAD-4.0.0 2.48044E-06
25546 33 K/N 50 None 0.1672 None gnomAD-4.0.0 6.84682E-07
25546 33 K/R 50 None 0.1672 None gnomAD-4.0.0 1.20032E-06
25547 34 V/M 51 rs1429730962 0.5193 None gnomAD-2.1.1 8.06E-06
25547 34 V/M 51 rs1429730962 0.5193 None gnomAD-4.0.0 6.84674E-06
25548 35 D/V 52 None 0.9781 None gnomAD-4.0.0 1.59375E-06
25549 36 G/S 55 rs181166140 0.4080 None 1000 genomes 7.98722E-04
25549 36 G/S 55 rs181166140 0.4080 None gnomAD-2.1.1 3.29308E-04
25549 36 G/S 55 rs181166140 0.4080 None gnomAD-3.1.2 1.13751E-03
25549 36 G/S 55 rs181166140 0.4080 None gnomAD-4.0.0 1.79821E-04
25551 38 I/M 58 None 0.3223 None gnomAD-4.0.0 1.59383E-06
25552 39 R/Q 69 rs779399871 0.2952 None gnomAD-2.1.1 1.21E-05
25552 39 R/Q 69 rs779399871 0.2952 None gnomAD-4.0.0 1.23246E-05
25552 39 R/G 69 rs545954490 0.2952 None gnomAD-2.1.1 3.19E-05
25553 40 D/N 70 rs1246439715 1.1278 None gnomAD-2.1.1 4.03E-06
25553 40 D/N 70 rs1246439715 1.1278 None gnomAD-4.0.0 1.59378E-06
25553 40 D/G 70 rs1197063716 1.1278 None gnomAD-2.1.1 4.03E-06
25553 40 D/G 70 rs1197063716 1.1278 None gnomAD-4.0.0 3.18749E-06
25553 40 D/E 70 rs1453473992 1.1278 None gnomAD-2.1.1 4.03E-06
25554 41 A/G 73 rs879087699 0.4039 None gnomAD-2.1.1 7.16E-06
25554 41 A/G 73 rs879087699 0.4039 None gnomAD-3.1.2 3.29E-05
25554 41 A/G 73 rs879087699 0.4039 None gnomAD-4.0.0 4.34072E-06
25555 42 A/V 102 rs1035031578 0.2426 None gnomAD-2.1.1 3.19E-05
25555 42 A/V 102 rs1035031578 0.2426 None gnomAD-3.1.2 1.32E-05
25555 42 A/V 102 rs1035031578 0.2426 None gnomAD-4.0.0 6.2008E-06
25556 43 I/V 122 rs1707317089 0.6627 None gnomAD-4.0.0 6.846E-06
25557 44 I/T 123 rs758441370 0.3378 None gnomAD-2.1.1 8.07E-06
25557 44 I/T 123 rs758441370 0.3378 None gnomAD-4.0.0 3.42287E-06
25558 45 D/Y 125 rs750336110 0.5478 None gnomAD-2.1.1 1.21E-05
25558 45 D/Y 125 rs750336110 0.5478 None gnomAD-4.0.0 5.47669E-06
25558 45 D/V 125 rs201095164 0.5478 None gnomAD-2.1.1 1.93332E-04
25558 45 D/V 125 rs201095164 0.5478 None gnomAD-3.1.2 1.05201E-04
25558 45 D/V 125 rs201095164 0.5478 None gnomAD-4.0.0 9.11376E-05
25562 49 S/G 134 rs1400963847 0.3863 None gnomAD-2.1.1 3.19E-05
25562 49 S/G 134 rs1400963847 0.3863 None gnomAD-3.1.2 6.57E-06
25562 49 S/G 134 rs1400963847 0.3863 None gnomAD-4.0.0 6.57454E-06
25563 50 F/Y 135 rs1273963065 0.2152 None gnomAD-2.1.1 4.03E-06
25563 50 F/Y 135 rs1273963065 0.2152 None gnomAD-4.0.0 4.77775E-06
25565 52 S/P 137 rs753679035 0.1425 None gnomAD-2.1.1 8.07E-06
25565 52 S/P 137 rs753679035 0.1425 None gnomAD-4.0.0 8.21342E-06
25566 53 L/V 138 rs1332447067 0.1058 None gnomAD-2.1.1 4.03E-06
25566 53 L/V 138 rs1332447067 0.1058 None gnomAD-4.0.0 1.36889E-06
25566 53 L/P 138 rs1323717498 0.1058 None gnomAD-2.1.1 4.03E-06
25566 53 L/P 138 rs1323717498 0.1058 None gnomAD-4.0.0 1.36888E-06
25567 54 V/F 139 rs3813244 0.2193 None 1000 genomes 5.99042E-04
25567 54 V/F 139 rs3813244 0.2193 None gnomAD-2.1.1 2.07653E-04
25567 54 V/F 139 rs3813244 0.2193 None gnomAD-3.1.2 1.18356E-04
25567 54 V/F 139 rs3813244 0.2193 None gnomAD-4.0.0 1.45048E-04
25567 54 V/I 139 None 0.2193 None gnomAD-4.0.0 6.84436E-07
25568 55 L/P 140 None 0.1305 None gnomAD-4.0.0 1.36885E-06
25569 56 D/H 141 None 0.5930 None gnomAD-4.0.0 1.5924E-06
25569 56 D/E 141 rs1002726225 0.5930 None gnomAD-4.0.0 2.73767E-06
25570 57 N/K 143 None 0.7122 None gnomAD-4.0.0 1.59235E-06
25570 57 N/S 143 None 0.7122 None gnomAD-4.0.0 1.59235E-06
25571 58 V/I 144 rs760782774 0.0975 None gnomAD-2.1.1 4.03E-06
25573 60 R/Q 146 rs760052770 0.1234 None gnomAD-2.1.1 1.21E-05
25573 60 R/Q 146 rs760052770 0.1234 None gnomAD-3.1.2 3.29E-05
25573 60 R/Q 146 rs760052770 0.1234 None gnomAD-4.0.0 1.85967E-05
25573 60 R/L 146 rs760052770 0.1234 None gnomAD-3.1.2 6.58E-06
25573 60 R/L 146 rs760052770 0.1234 None gnomAD-4.0.0 6.57609E-06
25574 61 Y/F 148 rs1199417769 0.5689 None gnomAD-3.1.2 6.58E-06
25574 61 Y/F 148 rs1199417769 0.5689 None gnomAD-4.0.0 6.57549E-06
25574 61 Y/H 148 rs3813245 0.5689 None 1000 genomes 2.23642E-02
25574 61 Y/H 148 rs3813245 0.5689 None gnomAD-2.1.1 2.57529E-02
25574 61 Y/H 148 rs3813245 0.5689 None gnomAD-3.1.2 2.02286E-02
25574 61 Y/H 148 rs3813245 0.5689 None gnomAD-4.0.0 2.29074E-02
25575 62 D/N 149 rs749711979 0.1678 None gnomAD-2.1.1 1.07E-05
25575 62 D/N 149 rs749711979 0.1678 None gnomAD-3.1.2 1.97E-05
25575 62 D/N 149 rs749711979 0.1678 None gnomAD-4.0.0 4.33919E-06
25576 63 S/N 151 rs1184700085 0.2298 None gnomAD-3.1.2 6.58E-06
25576 63 S/N 151 rs1184700085 0.2298 None gnomAD-4.0.0 6.57678E-06
25576 63 S/R 151 None 0.2298 None gnomAD-4.0.0 1.59225E-06
25576 63 S/T 151 None 0.2298 None gnomAD-4.0.0 1.32035E-05
25577 64 G/R 152 rs1482128356 0.2455 None gnomAD-2.1.1 4.03E-06
25579 66 Y/C 154 rs1707280961 0.1647 None gnomAD-3.1.2 6.58E-06
25579 66 Y/C 154 rs1707280961 0.1647 None gnomAD-4.0.0 5.07512E-06
25579 66 Y/H 154 rs1254023475 0.1647 None gnomAD-2.1.1 4.03E-06
25579 66 Y/H 154 rs1254023475 0.1647 None gnomAD-4.0.0 1.36877E-06
25580 67 T/R 155 None 0.2927 None gnomAD-4.0.0 6.84389E-07
25580 67 T/M 155 rs56372592 0.2927 None 1000 genomes 4.59265E-03
25580 67 T/M 155 rs56372592 0.2927 None gnomAD-2.1.1 1.61769E-03
25580 67 T/M 155 rs56372592 0.2927 None gnomAD-3.1.2 9.3394E-04
25580 67 T/M 155 rs56372592 0.2927 None gnomAD-4.0.0 5.79551E-04
25580 67 T/K 155 rs56372592 0.2927 None gnomAD-2.1.1 2.11159E-04
25580 67 T/K 155 rs56372592 0.2927 None gnomAD-3.1.2 2.36774E-04
25580 67 T/K 155 rs56372592 0.2927 None gnomAD-4.0.0 6.51499E-04
25580 67 T/A 155 rs371711135 0.2927 None gnomAD-2.1.1 2.15E-05
25580 67 T/A 155 rs371711135 0.2927 None gnomAD-3.1.2 9.86E-05
25580 67 T/A 155 rs371711135 0.2927 None gnomAD-4.0.0 1.6736E-05
25584 71 E/K 159 rs1217257725 0.4591 None gnomAD-2.1.1 4.03E-06
25584 71 E/K 159 rs1217257725 0.4591 None gnomAD-4.0.0 2.73746E-06
25585 72 N/K 161 rs1171173179 0.2233 None gnomAD-2.1.1 3.19E-05
25585 72 N/K 161 rs1171173179 0.2233 None gnomAD-3.1.2 1.97E-05
25585 72 N/K 161 rs1171173179 0.2233 None gnomAD-4.0.0 1.20032E-06
25586 73 S/R 162 rs757243379 0.6896 None gnomAD-2.1.1 2.86E-05
25586 73 S/R 162 rs757243379 0.6896 None gnomAD-3.1.2 6.58E-06
25586 73 S/R 162 rs757243379 0.6896 None gnomAD-4.0.0 2.47934E-06
25586 73 S/I 162 None 0.6896 None gnomAD-4.0.0 1.20032E-06
25586 73 S/G 162 rs757243379 0.6896 None gnomAD-2.1.1 8.06E-06
25586 73 S/G 162 rs757243379 0.6896 None gnomAD-4.0.0 5.47488E-06
25587 74 S/N 163 None 0.6980 None gnomAD-4.0.0 1.20033E-06
25588 75 G/R 164 rs1275050402 0.3712 None gnomAD-2.1.1 4.03E-06
25588 75 G/R 164 rs1275050402 0.3712 None gnomAD-3.1.2 6.58E-06
25588 75 G/R 164 rs1275050402 0.3712 None gnomAD-4.0.0 2.5636E-06
25589 76 T/A 165 rs794729499 0.5731 None gnomAD-2.1.1 4.03E-06
25589 76 T/A 165 rs794729499 0.5731 None gnomAD-3.1.2 6.57E-06
25589 76 T/A 165 rs794729499 0.5731 None gnomAD-4.0.0 3.71902E-06
25590 77 K/N 166 rs1707266415 0.8267 None gnomAD-3.1.2 6.57E-06
25590 77 K/N 166 rs1707266415 0.8267 None gnomAD-4.0.0 6.57497E-06
25590 77 K/R 166 rs1348119178 0.8267 None gnomAD-2.1.1 4.03E-06
25590 77 K/R 166 rs1348119178 0.8267 None gnomAD-4.0.0 1.59207E-06
25592 79 A/V 169 rs1707265300 0.4765 None gnomAD-4.0.0 1.59217E-06
25592 79 A/T 169 None 0.4765 None gnomAD-4.0.0 3.18432E-06
25593 80 F/Y 171 rs547186080 0.6458 None gnomAD-2.1.1 7.15E-06
25593 80 F/Y 171 rs547186080 0.6458 None gnomAD-3.1.2 1.31E-05
25593 80 F/Y 171 rs547186080 0.6458 None gnomAD-4.0.0 8.0579E-06
25598 85 V/I 177 rs763761448 1.3654 None gnomAD-2.1.1 8.06E-06
25598 85 V/I 177 rs763761448 1.3654 None gnomAD-4.0.0 1.59212E-06