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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 0.8926 None gnomAD-3.1.2 6.58E-06
25514 1 L/P 1 rs1553601755 0.8926 None gnomAD-4.0.0 6.57687E-06
25514 1 L/V 1 None 0.8926 None gnomAD-4.0.0 1.59377E-06
25515 2 E/K 2 rs755797898 0.4463 None gnomAD-2.1.1 8.12E-06
25516 3 L/I 3 rs752300467 0.2545 None gnomAD-2.1.1 1.22E-05
25516 3 L/I 3 rs752300467 0.2545 None gnomAD-3.1.2 6.58E-06
25516 3 L/I 3 rs752300467 0.2545 None gnomAD-4.0.0 6.20099E-06
25517 4 R/G 8 rs780584058 0.5483 None gnomAD-4.0.0 2.05375E-06
25518 5 K/R 9 None 0.4371 None gnomAD-4.0.0 1.20033E-06
25519 6 I/T 11 rs376185524 0.5571 None 1000 genomes 1.99681E-04
25519 6 I/T 11 rs376185524 0.5571 None gnomAD-2.1.1 4.86E-05
25519 6 I/T 11 rs376185524 0.5571 None gnomAD-3.1.2 1.97E-05
25519 6 I/T 11 rs376185524 0.5571 None gnomAD-4.0.0 2.41808E-05
25519 6 I/N 11 rs376185524 0.5571 None gnomAD-4.0.0 2.05366E-06
25520 7 I/T 13 rs1553601714 0.2446 None gnomAD-4.0.0 1.36904E-06
25522 9 I/T 16 rs372963832 0.1510 None gnomAD-2.1.1 4.04E-06
25522 9 I/T 16 rs372963832 0.1510 None gnomAD-3.1.2 1.32E-05
25522 9 I/T 16 rs372963832 0.1510 None gnomAD-4.0.0 1.67399E-05
25522 9 I/V 16 rs1403999176 0.1510 None gnomAD-3.1.2 1.97E-05
25522 9 I/V 16 rs1403999176 0.1510 None gnomAD-4.0.0 5.12934E-06
25523 10 R/S 18 None 0.7992 None gnomAD-4.0.0 6.84503E-07
25524 11 A/T 23 rs766397845 0.4076 None gnomAD-2.1.1 4.04E-06
25525 12 G/V 24 rs1428374737 0.3874 None gnomAD-3.1.2 6.58E-06
25525 12 G/V 24 rs1428374737 0.3874 None gnomAD-4.0.0 6.57869E-06
25525 12 G/S 24 None 0.3874 None gnomAD-4.0.0 1.59282E-06
25525 12 G/D 24 rs1428374737 0.3874 None gnomAD-2.1.1 4.04E-06
25525 12 G/D 24 rs1428374737 0.3874 None gnomAD-4.0.0 1.5928E-06
25526 13 G/V 25 None 0.1982 None gnomAD-4.0.0 6.8455E-07
25526 13 G/S 25 rs1246585720 0.1982 None gnomAD-2.1.1 4.04E-06
25526 13 G/S 25 rs1246585720 0.1982 None gnomAD-4.0.0 1.59277E-06
25526 13 G/D 25 rs369344156 0.1982 None gnomAD-2.1.1 3.19E-05
25526 13 G/D 25 rs369344156 0.1982 None gnomAD-3.1.2 1.32E-05
25526 13 G/D 25 rs369344156 0.1982 None gnomAD-4.0.0 1.92212E-05
25526 13 G/A 25 None 0.1982 None gnomAD-4.0.0 6.8455E-07
25529 16 R/K 29 rs750282861 0.6654 None gnomAD-2.1.1 2.42E-05
25529 16 R/K 29 rs750282861 0.6654 None gnomAD-4.0.0 4.10715E-06
25530 17 L/S 30 rs1465564864 0.1566 None gnomAD-2.1.1 4.04E-06
25530 17 L/S 30 rs1465564864 0.1566 None gnomAD-3.1.2 6.58E-06
25530 17 L/S 30 rs1465564864 0.1566 None gnomAD-4.0.0 1.86024E-06
25530 17 L/F 30 rs184034300 0.1566 None 1000 genomes 1.99681E-04
25530 17 L/F 30 rs184034300 0.1566 None gnomAD-2.1.1 1.79143E-04
25530 17 L/F 30 rs184034300 0.1566 None gnomAD-3.1.2 1.38167E-04
25530 17 L/F 30 rs184034300 0.1566 None gnomAD-4.0.0 6.84613E-07
25531 18 F/I 31 rs878933531 0.3956 None gnomAD-4.0.0 3.60097E-06
25531 18 F/S 31 rs976954474 0.3956 None gnomAD-2.1.1 7.16E-06
25531 18 F/S 31 rs976954474 0.3956 None gnomAD-3.1.2 1.32E-05
25531 18 F/S 31 rs976954474 0.3956 None gnomAD-4.0.0 3.10039E-06
25532 19 V/A 33 rs55984930 0.1231 None gnomAD-2.1.1 2.83E-05
25532 19 V/A 33 rs55984930 0.1231 None gnomAD-4.0.0 7.5315E-06
25532 19 V/F 33 rs1358589426 0.1231 None gnomAD-2.1.1 4.04E-06
25532 19 V/F 33 rs1358589426 0.1231 None gnomAD-4.0.0 2.73847E-06
25532 19 V/L 33 None 0.1231 None gnomAD-4.0.0 6.84618E-07
25533 20 P/S 34 rs1707347772 0.2754 None gnomAD-4.0.0 3.60097E-06
25534 21 I/V 35 rs1245433477 0.1073 None gnomAD-2.1.1 4.04E-06
25534 21 I/V 35 rs1245433477 0.1073 None gnomAD-4.0.0 6.84689E-07
25534 21 I/L 35 rs1245433477 0.1073 None gnomAD-2.1.1 4.04E-06
25534 21 I/L 35 rs1245433477 0.1073 None gnomAD-4.0.0 6.84689E-07
25536 23 G/V 40 rs1021201663 0.1875 None gnomAD-4.0.0 1.59386E-06
25536 23 G/D 40 rs1021201663 0.1875 None gnomAD-3.1.2 6.58E-06
25536 23 G/D 40 rs1021201663 0.1875 None gnomAD-4.0.0 6.57895E-06
25536 23 G/C 40 rs764082866 0.1875 None gnomAD-2.1.1 4.04E-06
25536 23 G/C 40 rs764082866 0.1875 None gnomAD-4.0.0 1.59382E-06
25537 24 R/C 41 rs527631472 0.4059 None 1000 genomes 1.99681E-04
25537 24 R/C 41 rs527631472 0.4059 None gnomAD-2.1.1 8.07E-06
25537 24 R/C 41 rs527631472 0.4059 None gnomAD-3.1.2 1.32E-05
25537 24 R/C 41 rs527631472 0.4059 None gnomAD-4.0.0 3.10092E-06
25537 24 R/G 41 rs527631472 0.4059 None gnomAD-2.1.1 4.04E-06
25537 24 R/G 41 rs527631472 0.4059 None gnomAD-4.0.0 2.05425E-06
25537 24 R/H 41 rs561977468 0.4059 None 1000 genomes 1.99681E-04
25537 24 R/H 41 rs561977468 0.4059 None gnomAD-2.1.1 1.397E-04
25537 24 R/H 41 rs561977468 0.4059 None gnomAD-3.1.2 8.55E-05
25537 24 R/H 41 rs561977468 0.4059 None gnomAD-4.0.0 4.65074E-05
25539 26 T/I 43 rs746337217 0.5243 None gnomAD-2.1.1 8.07E-06
25539 26 T/I 43 rs746337217 0.5243 None gnomAD-4.0.0 2.73857E-06
25540 27 P/L 44 rs541464855 0.1680 None gnomAD-2.1.1 4.03E-06
25540 27 P/L 44 rs541464855 0.1680 None gnomAD-4.0.0 6.84695E-07
25540 27 P/Q 44 rs541464855 0.1680 None 1000 genomes 1.99681E-04
25540 27 P/Q 44 rs541464855 0.1680 None gnomAD-2.1.1 3.19E-05
25540 27 P/Q 44 rs541464855 0.1680 None gnomAD-3.1.2 1.97E-05
25540 27 P/Q 44 rs541464855 0.1680 None gnomAD-4.0.0 4.96085E-06
25541 28 E/G 45 None 0.7177 None gnomAD-4.0.0 1.59406E-06
25542 29 V/I 46 None 0.2675 None gnomAD-2.1.1 8.07E-06
25542 29 V/I 46 None 0.2675 None gnomAD-4.0.0 4.10833E-06
25542 29 V/F 46 rs771230325 0.2675 None gnomAD-3.1.2 6.58E-06
25542 29 V/F 46 rs771230325 0.2675 None gnomAD-4.0.0 1.2403E-06
25543 30 K/R 47 None 0.5670 None gnomAD-4.0.0 1.20033E-06
25543 30 K/E 47 rs372016541 0.5670 None gnomAD-2.1.1 1.43E-05
25543 30 K/E 47 rs372016541 0.5670 None gnomAD-3.1.2 1.97E-05
25543 30 K/E 47 rs372016541 0.5670 None gnomAD-4.0.0 4.34098E-06
25545 32 G/R 49 rs575965326 0.2476 None 1000 genomes 1.99681E-04
25545 32 G/R 49 rs575965326 0.2476 None gnomAD-2.1.1 4.03E-06
25545 32 G/R 49 rs575965326 0.2476 None gnomAD-3.1.2 6.58E-06
25545 32 G/R 49 rs575965326 0.2476 None gnomAD-4.0.0 2.48044E-06
25546 33 K/N 50 None 0.1490 None gnomAD-4.0.0 6.84682E-07
25546 33 K/R 50 None 0.1490 None gnomAD-4.0.0 1.20032E-06
25547 34 V/M 51 rs1429730962 0.5278 None gnomAD-2.1.1 8.06E-06
25547 34 V/M 51 rs1429730962 0.5278 None gnomAD-4.0.0 6.84674E-06
25548 35 D/V 52 None 0.9609 None gnomAD-4.0.0 1.59375E-06
25549 36 G/S 55 rs181166140 0.3845 None 1000 genomes 7.98722E-04
25549 36 G/S 55 rs181166140 0.3845 None gnomAD-2.1.1 3.29308E-04
25549 36 G/S 55 rs181166140 0.3845 None gnomAD-3.1.2 1.13751E-03
25549 36 G/S 55 rs181166140 0.3845 None gnomAD-4.0.0 1.79821E-04
25551 38 I/M 58 None 0.2707 None gnomAD-4.0.0 1.59383E-06
25552 39 R/Q 69 rs779399871 0.3124 None gnomAD-2.1.1 1.21E-05
25552 39 R/Q 69 rs779399871 0.3124 None gnomAD-4.0.0 1.23246E-05
25552 39 R/G 69 rs545954490 0.3124 None gnomAD-2.1.1 3.19E-05
25553 40 D/N 70 rs1246439715 1.1316 None gnomAD-2.1.1 4.03E-06
25553 40 D/N 70 rs1246439715 1.1316 None gnomAD-4.0.0 1.59378E-06
25553 40 D/G 70 rs1197063716 1.1316 None gnomAD-2.1.1 4.03E-06
25553 40 D/G 70 rs1197063716 1.1316 None gnomAD-4.0.0 3.18749E-06
25553 40 D/E 70 rs1453473992 1.1316 None gnomAD-2.1.1 4.03E-06
25554 41 A/G 73 rs879087699 0.4133 None gnomAD-2.1.1 7.16E-06
25554 41 A/G 73 rs879087699 0.4133 None gnomAD-3.1.2 3.29E-05
25554 41 A/G 73 rs879087699 0.4133 None gnomAD-4.0.0 4.34072E-06
25555 42 A/V 102 rs1035031578 0.1990 None gnomAD-2.1.1 3.19E-05
25555 42 A/V 102 rs1035031578 0.1990 None gnomAD-3.1.2 1.32E-05
25555 42 A/V 102 rs1035031578 0.1990 None gnomAD-4.0.0 6.2008E-06
25556 43 I/V 122 rs1707317089 0.6388 None gnomAD-4.0.0 6.846E-06
25557 44 I/T 123 rs758441370 0.3215 None gnomAD-2.1.1 8.07E-06
25557 44 I/T 123 rs758441370 0.3215 None gnomAD-4.0.0 3.42287E-06
25558 45 D/Y 125 rs750336110 0.6243 None gnomAD-2.1.1 1.21E-05
25558 45 D/Y 125 rs750336110 0.6243 None gnomAD-4.0.0 5.47669E-06
25558 45 D/V 125 rs201095164 0.6243 None gnomAD-2.1.1 1.93332E-04
25558 45 D/V 125 rs201095164 0.6243 None gnomAD-3.1.2 1.05201E-04
25558 45 D/V 125 rs201095164 0.6243 None gnomAD-4.0.0 9.11376E-05
25562 49 S/G 134 rs1400963847 0.3485 None gnomAD-2.1.1 3.19E-05
25562 49 S/G 134 rs1400963847 0.3485 None gnomAD-3.1.2 6.57E-06
25562 49 S/G 134 rs1400963847 0.3485 None gnomAD-4.0.0 6.57454E-06
25563 50 F/Y 135 rs1273963065 0.2138 None gnomAD-2.1.1 4.03E-06
25563 50 F/Y 135 rs1273963065 0.2138 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 0.1015 None gnomAD-2.1.1 4.03E-06
25566 53 L/V 138 rs1332447067 0.1015 None gnomAD-4.0.0 1.36889E-06
25566 53 L/P 138 rs1323717498 0.1015 None gnomAD-2.1.1 4.03E-06
25566 53 L/P 138 rs1323717498 0.1015 None gnomAD-4.0.0 1.36888E-06
25567 54 V/F 139 rs3813244 0.2250 None 1000 genomes 5.99042E-04
25567 54 V/F 139 rs3813244 0.2250 None gnomAD-2.1.1 2.07653E-04
25567 54 V/F 139 rs3813244 0.2250 None gnomAD-3.1.2 1.18356E-04
25567 54 V/F 139 rs3813244 0.2250 None gnomAD-4.0.0 1.45048E-04
25567 54 V/I 139 None 0.2250 None gnomAD-4.0.0 6.84436E-07
25568 55 L/P 140 None 0.1330 None gnomAD-4.0.0 1.36885E-06
25569 56 D/H 141 None 0.5997 None gnomAD-4.0.0 1.5924E-06
25569 56 D/E 141 rs1002726225 0.5997 None gnomAD-4.0.0 2.73767E-06
25570 57 N/K 143 None 0.7386 None gnomAD-4.0.0 1.59235E-06
25570 57 N/S 143 None 0.7386 None gnomAD-4.0.0 1.59235E-06
25571 58 V/I 144 rs760782774 0.0881 None gnomAD-2.1.1 4.03E-06
25573 60 R/Q 146 rs760052770 0.6659 None gnomAD-2.1.1 1.21E-05
25573 60 R/Q 146 rs760052770 0.6659 None gnomAD-3.1.2 3.29E-05
25573 60 R/Q 146 rs760052770 0.6659 None gnomAD-4.0.0 1.85967E-05
25573 60 R/L 146 rs760052770 0.6659 None gnomAD-3.1.2 6.58E-06
25573 60 R/L 146 rs760052770 0.6659 None gnomAD-4.0.0 6.57609E-06
25574 61 Y/F 148 rs1199417769 0.7269 None gnomAD-3.1.2 6.58E-06
25574 61 Y/F 148 rs1199417769 0.7269 None gnomAD-4.0.0 6.57549E-06
25574 61 Y/H 148 rs3813245 0.7269 None 1000 genomes 2.23642E-02
25574 61 Y/H 148 rs3813245 0.7269 None gnomAD-2.1.1 2.57529E-02
25574 61 Y/H 148 rs3813245 0.7269 None gnomAD-3.1.2 2.02286E-02
25574 61 Y/H 148 rs3813245 0.7269 None gnomAD-4.0.0 2.29074E-02
25575 62 D/N 149 rs749711979 0.1500 None gnomAD-2.1.1 1.07E-05
25575 62 D/N 149 rs749711979 0.1500 None gnomAD-3.1.2 1.97E-05
25575 62 D/N 149 rs749711979 0.1500 None gnomAD-4.0.0 4.33919E-06
25576 63 S/N 151 rs1184700085 0.2588 None gnomAD-3.1.2 6.58E-06
25576 63 S/N 151 rs1184700085 0.2588 None gnomAD-4.0.0 6.57678E-06
25576 63 S/R 151 None 0.2588 None gnomAD-4.0.0 1.59225E-06
25576 63 S/T 151 None 0.2588 None gnomAD-4.0.0 1.32035E-05
25577 64 G/R 152 rs1482128356 0.2442 None gnomAD-2.1.1 4.03E-06
25579 66 Y/C 154 rs1707280961 0.1559 None gnomAD-3.1.2 6.58E-06
25579 66 Y/C 154 rs1707280961 0.1559 None gnomAD-4.0.0 5.07512E-06
25579 66 Y/H 154 rs1254023475 0.1559 None gnomAD-2.1.1 4.03E-06
25579 66 Y/H 154 rs1254023475 0.1559 None gnomAD-4.0.0 1.36877E-06
25580 67 T/R 155 None 0.2917 None gnomAD-4.0.0 6.84389E-07
25580 67 T/M 155 rs56372592 0.2917 None 1000 genomes 4.59265E-03
25580 67 T/M 155 rs56372592 0.2917 None gnomAD-2.1.1 1.61769E-03
25580 67 T/M 155 rs56372592 0.2917 None gnomAD-3.1.2 9.3394E-04
25580 67 T/M 155 rs56372592 0.2917 None gnomAD-4.0.0 5.79551E-04
25580 67 T/K 155 rs56372592 0.2917 None gnomAD-2.1.1 2.11159E-04
25580 67 T/K 155 rs56372592 0.2917 None gnomAD-3.1.2 2.36774E-04
25580 67 T/K 155 rs56372592 0.2917 None gnomAD-4.0.0 6.51499E-04
25580 67 T/A 155 rs371711135 0.2917 None gnomAD-2.1.1 2.15E-05
25580 67 T/A 155 rs371711135 0.2917 None gnomAD-3.1.2 9.86E-05
25580 67 T/A 155 rs371711135 0.2917 None gnomAD-4.0.0 1.6736E-05
25584 71 E/K 159 rs1217257725 0.4775 None gnomAD-2.1.1 4.03E-06
25584 71 E/K 159 rs1217257725 0.4775 None gnomAD-4.0.0 2.73746E-06
25585 72 N/K 161 rs1171173179 0.1198 None gnomAD-2.1.1 3.19E-05
25585 72 N/K 161 rs1171173179 0.1198 None gnomAD-3.1.2 1.97E-05
25585 72 N/K 161 rs1171173179 0.1198 None gnomAD-4.0.0 1.20032E-06
25586 73 S/R 162 rs757243379 0.7021 None gnomAD-2.1.1 2.86E-05
25586 73 S/R 162 rs757243379 0.7021 None gnomAD-3.1.2 6.58E-06
25586 73 S/R 162 rs757243379 0.7021 None gnomAD-4.0.0 2.47934E-06
25586 73 S/I 162 None 0.7021 None gnomAD-4.0.0 1.20032E-06
25586 73 S/G 162 rs757243379 0.7021 None gnomAD-2.1.1 8.06E-06
25586 73 S/G 162 rs757243379 0.7021 None gnomAD-4.0.0 5.47488E-06
25587 74 S/N 163 None 0.3313 None gnomAD-4.0.0 1.20033E-06
25588 75 G/R 164 rs1275050402 0.2344 None gnomAD-2.1.1 4.03E-06
25588 75 G/R 164 rs1275050402 0.2344 None gnomAD-3.1.2 6.58E-06
25588 75 G/R 164 rs1275050402 0.2344 None gnomAD-4.0.0 2.5636E-06
25589 76 T/A 165 rs794729499 0.5078 None gnomAD-2.1.1 4.03E-06
25589 76 T/A 165 rs794729499 0.5078 None gnomAD-3.1.2 6.57E-06
25589 76 T/A 165 rs794729499 0.5078 None gnomAD-4.0.0 3.71902E-06
25590 77 K/N 166 rs1707266415 0.2873 None gnomAD-3.1.2 6.57E-06
25590 77 K/N 166 rs1707266415 0.2873 None gnomAD-4.0.0 6.57497E-06
25590 77 K/R 166 rs1348119178 0.2873 None gnomAD-2.1.1 4.03E-06
25590 77 K/R 166 rs1348119178 0.2873 None gnomAD-4.0.0 1.59207E-06
25592 79 A/V 169 rs1707265300 0.2931 None gnomAD-4.0.0 1.59217E-06
25592 79 A/T 169 None 0.2931 None gnomAD-4.0.0 3.18432E-06
25593 80 F/Y 171 rs547186080 0.6609 None gnomAD-2.1.1 7.15E-06
25593 80 F/Y 171 rs547186080 0.6609 None gnomAD-3.1.2 1.31E-05
25593 80 F/Y 171 rs547186080 0.6609 None gnomAD-4.0.0 8.0579E-06
25598 85 V/I 177 rs763761448 0.1656 None gnomAD-2.1.1 8.06E-06
25598 85 V/I 177 rs763761448 0.1656 None gnomAD-4.0.0 1.59212E-06