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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 0.8682 None gnomAD-3.1.2 6.58E-06
25514 1 L/P 1 rs1553601755 0.8682 None gnomAD-4.0.0 6.57687E-06
25514 1 L/V 1 None 0.8682 None gnomAD-4.0.0 1.59377E-06
25515 2 E/K 2 rs755797898 0.4221 None gnomAD-2.1.1 8.12E-06
25516 3 L/I 3 rs752300467 0.2221 None gnomAD-2.1.1 1.22E-05
25516 3 L/I 3 rs752300467 0.2221 None gnomAD-3.1.2 6.58E-06
25516 3 L/I 3 rs752300467 0.2221 None gnomAD-4.0.0 6.20099E-06
25517 4 R/G 8 rs780584058 0.5378 None gnomAD-4.0.0 2.05375E-06
25518 5 K/R 9 None 0.4189 None gnomAD-4.0.0 1.20033E-06
25519 6 I/T 11 rs376185524 0.5579 None 1000 genomes 1.99681E-04
25519 6 I/T 11 rs376185524 0.5579 None gnomAD-2.1.1 4.86E-05
25519 6 I/T 11 rs376185524 0.5579 None gnomAD-3.1.2 1.97E-05
25519 6 I/T 11 rs376185524 0.5579 None gnomAD-4.0.0 2.41808E-05
25519 6 I/N 11 rs376185524 0.5579 None gnomAD-4.0.0 2.05366E-06
25520 7 I/T 13 rs1553601714 0.2316 None gnomAD-4.0.0 1.36904E-06
25522 9 I/T 16 rs372963832 0.1711 None gnomAD-2.1.1 4.04E-06
25522 9 I/T 16 rs372963832 0.1711 None gnomAD-3.1.2 1.32E-05
25522 9 I/T 16 rs372963832 0.1711 None gnomAD-4.0.0 1.67399E-05
25522 9 I/V 16 rs1403999176 0.1711 None gnomAD-3.1.2 1.97E-05
25522 9 I/V 16 rs1403999176 0.1711 None gnomAD-4.0.0 5.12934E-06
25523 10 R/S 18 None 0.6395 None gnomAD-4.0.0 6.84503E-07
25524 11 A/T 23 rs766397845 0.3767 None gnomAD-2.1.1 4.04E-06
25525 12 G/V 24 rs1428374737 0.3777 None gnomAD-3.1.2 6.58E-06
25525 12 G/V 24 rs1428374737 0.3777 None gnomAD-4.0.0 6.57869E-06
25525 12 G/S 24 None 0.3777 None gnomAD-4.0.0 1.59282E-06
25525 12 G/D 24 rs1428374737 0.3777 None gnomAD-2.1.1 4.04E-06
25525 12 G/D 24 rs1428374737 0.3777 None gnomAD-4.0.0 1.5928E-06
25526 13 G/V 25 None 0.2265 None gnomAD-4.0.0 6.8455E-07
25526 13 G/S 25 rs1246585720 0.2265 None gnomAD-2.1.1 4.04E-06
25526 13 G/S 25 rs1246585720 0.2265 None gnomAD-4.0.0 1.59277E-06
25526 13 G/D 25 rs369344156 0.2265 None gnomAD-2.1.1 3.19E-05
25526 13 G/D 25 rs369344156 0.2265 None gnomAD-3.1.2 1.32E-05
25526 13 G/D 25 rs369344156 0.2265 None gnomAD-4.0.0 1.92212E-05
25526 13 G/A 25 None 0.2265 None gnomAD-4.0.0 6.8455E-07
25529 16 R/K 29 rs750282861 0.6870 None gnomAD-2.1.1 2.42E-05
25529 16 R/K 29 rs750282861 0.6870 None gnomAD-4.0.0 4.10715E-06
25530 17 L/S 30 rs1465564864 0.1494 None gnomAD-2.1.1 4.04E-06
25530 17 L/S 30 rs1465564864 0.1494 None gnomAD-3.1.2 6.58E-06
25530 17 L/S 30 rs1465564864 0.1494 None gnomAD-4.0.0 1.86024E-06
25530 17 L/F 30 rs184034300 0.1494 None 1000 genomes 1.99681E-04
25530 17 L/F 30 rs184034300 0.1494 None gnomAD-2.1.1 1.79143E-04
25530 17 L/F 30 rs184034300 0.1494 None gnomAD-3.1.2 1.38167E-04
25530 17 L/F 30 rs184034300 0.1494 None gnomAD-4.0.0 6.84613E-07
25531 18 F/I 31 rs878933531 0.3781 None gnomAD-4.0.0 3.60097E-06
25531 18 F/S 31 rs976954474 0.3781 None gnomAD-2.1.1 7.16E-06
25531 18 F/S 31 rs976954474 0.3781 None gnomAD-3.1.2 1.32E-05
25531 18 F/S 31 rs976954474 0.3781 None gnomAD-4.0.0 3.10039E-06
25532 19 V/A 33 rs55984930 0.1097 None gnomAD-2.1.1 2.83E-05
25532 19 V/A 33 rs55984930 0.1097 None gnomAD-4.0.0 7.5315E-06
25532 19 V/F 33 rs1358589426 0.1097 None gnomAD-2.1.1 4.04E-06
25532 19 V/F 33 rs1358589426 0.1097 None gnomAD-4.0.0 2.73847E-06
25532 19 V/L 33 None 0.1097 None gnomAD-4.0.0 6.84618E-07
25533 20 P/S 34 rs1707347772 0.2542 None gnomAD-4.0.0 3.60097E-06
25534 21 I/V 35 rs1245433477 0.1085 None gnomAD-2.1.1 4.04E-06
25534 21 I/V 35 rs1245433477 0.1085 None gnomAD-4.0.0 6.84689E-07
25534 21 I/L 35 rs1245433477 0.1085 None gnomAD-2.1.1 4.04E-06
25534 21 I/L 35 rs1245433477 0.1085 None gnomAD-4.0.0 6.84689E-07
25536 23 G/V 40 rs1021201663 0.1581 None gnomAD-4.0.0 1.59386E-06
25536 23 G/D 40 rs1021201663 0.1581 None gnomAD-3.1.2 6.58E-06
25536 23 G/D 40 rs1021201663 0.1581 None gnomAD-4.0.0 6.57895E-06
25536 23 G/C 40 rs764082866 0.1581 None gnomAD-2.1.1 4.04E-06
25536 23 G/C 40 rs764082866 0.1581 None gnomAD-4.0.0 1.59382E-06
25537 24 R/C 41 rs527631472 0.5928 None 1000 genomes 1.99681E-04
25537 24 R/C 41 rs527631472 0.5928 None gnomAD-2.1.1 8.07E-06
25537 24 R/C 41 rs527631472 0.5928 None gnomAD-3.1.2 1.32E-05
25537 24 R/C 41 rs527631472 0.5928 None gnomAD-4.0.0 3.10092E-06
25537 24 R/G 41 rs527631472 0.5928 None gnomAD-2.1.1 4.04E-06
25537 24 R/G 41 rs527631472 0.5928 None gnomAD-4.0.0 2.05425E-06
25537 24 R/H 41 rs561977468 0.5928 None 1000 genomes 1.99681E-04
25537 24 R/H 41 rs561977468 0.5928 None gnomAD-2.1.1 1.397E-04
25537 24 R/H 41 rs561977468 0.5928 None gnomAD-3.1.2 8.55E-05
25537 24 R/H 41 rs561977468 0.5928 None gnomAD-4.0.0 4.65074E-05
25539 26 T/I 43 rs746337217 0.5119 None gnomAD-2.1.1 8.07E-06
25539 26 T/I 43 rs746337217 0.5119 None gnomAD-4.0.0 2.73857E-06
25540 27 P/L 44 rs541464855 0.1593 None gnomAD-2.1.1 4.03E-06
25540 27 P/L 44 rs541464855 0.1593 None gnomAD-4.0.0 6.84695E-07
25540 27 P/Q 44 rs541464855 0.1593 None 1000 genomes 1.99681E-04
25540 27 P/Q 44 rs541464855 0.1593 None gnomAD-2.1.1 3.19E-05
25540 27 P/Q 44 rs541464855 0.1593 None gnomAD-3.1.2 1.97E-05
25540 27 P/Q 44 rs541464855 0.1593 None gnomAD-4.0.0 4.96085E-06
25541 28 E/G 45 None 0.8108 None gnomAD-4.0.0 1.59406E-06
25542 29 V/I 46 None 0.2952 None gnomAD-2.1.1 8.07E-06
25542 29 V/I 46 None 0.2952 None gnomAD-4.0.0 4.10833E-06
25542 29 V/F 46 rs771230325 0.2952 None gnomAD-3.1.2 6.58E-06
25542 29 V/F 46 rs771230325 0.2952 None gnomAD-4.0.0 1.2403E-06
25543 30 K/R 47 None 0.7738 None gnomAD-4.0.0 1.20033E-06
25543 30 K/E 47 rs372016541 0.7738 None gnomAD-2.1.1 1.43E-05
25543 30 K/E 47 rs372016541 0.7738 None gnomAD-3.1.2 1.97E-05
25543 30 K/E 47 rs372016541 0.7738 None gnomAD-4.0.0 4.34098E-06
25545 32 G/R 49 rs575965326 0.2338 None 1000 genomes 1.99681E-04
25545 32 G/R 49 rs575965326 0.2338 None gnomAD-2.1.1 4.03E-06
25545 32 G/R 49 rs575965326 0.2338 None gnomAD-3.1.2 6.58E-06
25545 32 G/R 49 rs575965326 0.2338 None gnomAD-4.0.0 2.48044E-06
25546 33 K/N 50 None 0.1500 None gnomAD-4.0.0 6.84682E-07
25546 33 K/R 50 None 0.1500 None gnomAD-4.0.0 1.20032E-06
25547 34 V/M 51 rs1429730962 0.4360 None gnomAD-2.1.1 8.06E-06
25547 34 V/M 51 rs1429730962 0.4360 None gnomAD-4.0.0 6.84674E-06
25548 35 D/V 52 None 1.1193 None gnomAD-4.0.0 1.59375E-06
25549 36 G/S 55 rs181166140 0.4053 None 1000 genomes 7.98722E-04
25549 36 G/S 55 rs181166140 0.4053 None gnomAD-2.1.1 3.29308E-04
25549 36 G/S 55 rs181166140 0.4053 None gnomAD-3.1.2 1.13751E-03
25549 36 G/S 55 rs181166140 0.4053 None gnomAD-4.0.0 1.79821E-04
25551 38 I/M 58 None 0.2630 None gnomAD-4.0.0 1.59383E-06
25552 39 R/Q 69 rs779399871 0.4186 None gnomAD-2.1.1 1.21E-05
25552 39 R/Q 69 rs779399871 0.4186 None gnomAD-4.0.0 1.23246E-05
25552 39 R/G 69 rs545954490 0.4186 None gnomAD-2.1.1 3.19E-05
25553 40 D/N 70 rs1246439715 1.1319 None gnomAD-2.1.1 4.03E-06
25553 40 D/N 70 rs1246439715 1.1319 None gnomAD-4.0.0 1.59378E-06
25553 40 D/G 70 rs1197063716 1.1319 None gnomAD-2.1.1 4.03E-06
25553 40 D/G 70 rs1197063716 1.1319 None gnomAD-4.0.0 3.18749E-06
25553 40 D/E 70 rs1453473992 1.1319 None gnomAD-2.1.1 4.03E-06
25554 41 A/G 73 rs879087699 0.4760 None gnomAD-2.1.1 7.16E-06
25554 41 A/G 73 rs879087699 0.4760 None gnomAD-3.1.2 3.29E-05
25554 41 A/G 73 rs879087699 0.4760 None gnomAD-4.0.0 4.34072E-06
25555 42 A/V 102 rs1035031578 0.2023 None gnomAD-2.1.1 3.19E-05
25555 42 A/V 102 rs1035031578 0.2023 None gnomAD-3.1.2 1.32E-05
25555 42 A/V 102 rs1035031578 0.2023 None gnomAD-4.0.0 6.2008E-06
25556 43 I/V 122 rs1707317089 0.6869 None gnomAD-4.0.0 6.846E-06
25557 44 I/T 123 rs758441370 0.3225 None gnomAD-2.1.1 8.07E-06
25557 44 I/T 123 rs758441370 0.3225 None gnomAD-4.0.0 3.42287E-06
25558 45 D/Y 125 rs750336110 0.6337 None gnomAD-2.1.1 1.21E-05
25558 45 D/Y 125 rs750336110 0.6337 None gnomAD-4.0.0 5.47669E-06
25558 45 D/V 125 rs201095164 0.6337 None gnomAD-2.1.1 1.93332E-04
25558 45 D/V 125 rs201095164 0.6337 None gnomAD-3.1.2 1.05201E-04
25558 45 D/V 125 rs201095164 0.6337 None gnomAD-4.0.0 9.11376E-05
25562 49 S/G 134 rs1400963847 0.3735 None gnomAD-2.1.1 3.19E-05
25562 49 S/G 134 rs1400963847 0.3735 None gnomAD-3.1.2 6.57E-06
25562 49 S/G 134 rs1400963847 0.3735 None gnomAD-4.0.0 6.57454E-06
25563 50 F/Y 135 rs1273963065 0.2162 None gnomAD-2.1.1 4.03E-06
25563 50 F/Y 135 rs1273963065 0.2162 None gnomAD-4.0.0 4.77775E-06
25565 52 S/P 137 rs753679035 0.1645 None gnomAD-2.1.1 8.07E-06
25565 52 S/P 137 rs753679035 0.1645 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 0.2566 None 1000 genomes 5.99042E-04
25567 54 V/F 139 rs3813244 0.2566 None gnomAD-2.1.1 2.07653E-04
25567 54 V/F 139 rs3813244 0.2566 None gnomAD-3.1.2 1.18356E-04
25567 54 V/F 139 rs3813244 0.2566 None gnomAD-4.0.0 1.45048E-04
25567 54 V/I 139 None 0.2566 None gnomAD-4.0.0 6.84436E-07
25568 55 L/P 140 None 0.1533 None gnomAD-4.0.0 1.36885E-06
25569 56 D/H 141 None 0.6338 None gnomAD-4.0.0 1.5924E-06
25569 56 D/E 141 rs1002726225 0.6338 None gnomAD-4.0.0 2.73767E-06
25570 57 N/K 143 None 0.7556 None gnomAD-4.0.0 1.59235E-06
25570 57 N/S 143 None 0.7556 None gnomAD-4.0.0 1.59235E-06
25571 58 V/I 144 rs760782774 0.1015 None gnomAD-2.1.1 4.03E-06
25573 60 R/Q 146 rs760052770 0.6246 None gnomAD-2.1.1 1.21E-05
25573 60 R/Q 146 rs760052770 0.6246 None gnomAD-3.1.2 3.29E-05
25573 60 R/Q 146 rs760052770 0.6246 None gnomAD-4.0.0 1.85967E-05
25573 60 R/L 146 rs760052770 0.6246 None gnomAD-3.1.2 6.58E-06
25573 60 R/L 146 rs760052770 0.6246 None gnomAD-4.0.0 6.57609E-06
25574 61 Y/F 148 rs1199417769 0.7216 None gnomAD-3.1.2 6.58E-06
25574 61 Y/F 148 rs1199417769 0.7216 None gnomAD-4.0.0 6.57549E-06
25574 61 Y/H 148 rs3813245 0.7216 None 1000 genomes 2.23642E-02
25574 61 Y/H 148 rs3813245 0.7216 None gnomAD-2.1.1 2.57529E-02
25574 61 Y/H 148 rs3813245 0.7216 None gnomAD-3.1.2 2.02286E-02
25574 61 Y/H 148 rs3813245 0.7216 None gnomAD-4.0.0 2.29074E-02
25575 62 D/N 149 rs749711979 0.1552 None gnomAD-2.1.1 1.07E-05
25575 62 D/N 149 rs749711979 0.1552 None gnomAD-3.1.2 1.97E-05
25575 62 D/N 149 rs749711979 0.1552 None gnomAD-4.0.0 4.33919E-06
25576 63 S/N 151 rs1184700085 0.2440 None gnomAD-3.1.2 6.58E-06
25576 63 S/N 151 rs1184700085 0.2440 None gnomAD-4.0.0 6.57678E-06
25576 63 S/R 151 None 0.2440 None gnomAD-4.0.0 1.59225E-06
25576 63 S/T 151 None 0.2440 None gnomAD-4.0.0 1.32035E-05
25577 64 G/R 152 rs1482128356 0.2398 None gnomAD-2.1.1 4.03E-06
25579 66 Y/C 154 rs1707280961 0.1502 None gnomAD-3.1.2 6.58E-06
25579 66 Y/C 154 rs1707280961 0.1502 None gnomAD-4.0.0 5.07512E-06
25579 66 Y/H 154 rs1254023475 0.1502 None gnomAD-2.1.1 4.03E-06
25579 66 Y/H 154 rs1254023475 0.1502 None gnomAD-4.0.0 1.36877E-06
25580 67 T/R 155 None 0.2750 None gnomAD-4.0.0 6.84389E-07
25580 67 T/M 155 rs56372592 0.2750 None 1000 genomes 4.59265E-03
25580 67 T/M 155 rs56372592 0.2750 None gnomAD-2.1.1 1.61769E-03
25580 67 T/M 155 rs56372592 0.2750 None gnomAD-3.1.2 9.3394E-04
25580 67 T/M 155 rs56372592 0.2750 None gnomAD-4.0.0 5.79551E-04
25580 67 T/K 155 rs56372592 0.2750 None gnomAD-2.1.1 2.11159E-04
25580 67 T/K 155 rs56372592 0.2750 None gnomAD-3.1.2 2.36774E-04
25580 67 T/K 155 rs56372592 0.2750 None gnomAD-4.0.0 6.51499E-04
25580 67 T/A 155 rs371711135 0.2750 None gnomAD-2.1.1 2.15E-05
25580 67 T/A 155 rs371711135 0.2750 None gnomAD-3.1.2 9.86E-05
25580 67 T/A 155 rs371711135 0.2750 None gnomAD-4.0.0 1.6736E-05
25584 71 E/K 159 rs1217257725 0.5241 None gnomAD-2.1.1 4.03E-06
25584 71 E/K 159 rs1217257725 0.5241 None gnomAD-4.0.0 2.73746E-06
25585 72 N/K 161 rs1171173179 0.1135 None gnomAD-2.1.1 3.19E-05
25585 72 N/K 161 rs1171173179 0.1135 None gnomAD-3.1.2 1.97E-05
25585 72 N/K 161 rs1171173179 0.1135 None gnomAD-4.0.0 1.20032E-06
25586 73 S/R 162 rs757243379 0.6617 None gnomAD-2.1.1 2.86E-05
25586 73 S/R 162 rs757243379 0.6617 None gnomAD-3.1.2 6.58E-06
25586 73 S/R 162 rs757243379 0.6617 None gnomAD-4.0.0 2.47934E-06
25586 73 S/I 162 None 0.6617 None gnomAD-4.0.0 1.20032E-06
25586 73 S/G 162 rs757243379 0.6617 None gnomAD-2.1.1 8.06E-06
25586 73 S/G 162 rs757243379 0.6617 None gnomAD-4.0.0 5.47488E-06
25587 74 S/N 163 None 0.3445 None gnomAD-4.0.0 1.20033E-06
25588 75 G/R 164 rs1275050402 0.2395 None gnomAD-2.1.1 4.03E-06
25588 75 G/R 164 rs1275050402 0.2395 None gnomAD-3.1.2 6.58E-06
25588 75 G/R 164 rs1275050402 0.2395 None gnomAD-4.0.0 2.5636E-06
25589 76 T/A 165 rs794729499 0.4757 None gnomAD-2.1.1 4.03E-06
25589 76 T/A 165 rs794729499 0.4757 None gnomAD-3.1.2 6.57E-06
25589 76 T/A 165 rs794729499 0.4757 None gnomAD-4.0.0 3.71902E-06
25590 77 K/N 166 rs1707266415 0.2945 None gnomAD-3.1.2 6.57E-06
25590 77 K/N 166 rs1707266415 0.2945 None gnomAD-4.0.0 6.57497E-06
25590 77 K/R 166 rs1348119178 0.2945 None gnomAD-2.1.1 4.03E-06
25590 77 K/R 166 rs1348119178 0.2945 None gnomAD-4.0.0 1.59207E-06
25592 79 A/V 169 rs1707265300 0.2535 None gnomAD-4.0.0 1.59217E-06
25592 79 A/T 169 None 0.2535 None gnomAD-4.0.0 3.18432E-06
25593 80 F/Y 171 rs547186080 0.5694 None gnomAD-2.1.1 7.15E-06
25593 80 F/Y 171 rs547186080 0.5694 None gnomAD-3.1.2 1.31E-05
25593 80 F/Y 171 rs547186080 0.5694 None gnomAD-4.0.0 8.0579E-06
25598 85 V/I 177 rs763761448 0.1601 None gnomAD-2.1.1 8.06E-06
25598 85 V/I 177 rs763761448 0.1601 None gnomAD-4.0.0 1.59212E-06