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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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
25514 1 L/P 1 rs1553601755 1.0408 None gnomAD-3.1.2 6.58E-06
25514 1 L/P 1 rs1553601755 1.0408 None gnomAD-4.0.0 6.57687E-06
25514 1 L/V 1 None 1.0408 None gnomAD-4.0.0 1.59377E-06
25515 2 E/K 2 rs755797898 0.5616 None gnomAD-2.1.1 8.12E-06
25516 3 L/I 3 rs752300467 0.4406 None gnomAD-2.1.1 1.22E-05
25516 3 L/I 3 rs752300467 0.4406 None gnomAD-3.1.2 6.58E-06
25516 3 L/I 3 rs752300467 0.4406 None gnomAD-4.0.0 6.20099E-06
25517 4 R/G 8 rs780584058 0.7443 None gnomAD-4.0.0 2.05375E-06
25518 5 K/R 9 None 0.4524 None gnomAD-4.0.0 1.20033E-06
25519 6 I/N 11 rs376185524 0.5383 None gnomAD-4.0.0 2.05366E-06
25519 6 I/T 11 rs376185524 0.5383 None gnomAD-2.1.1 4.86E-05
25519 6 I/T 11 rs376185524 0.5383 None gnomAD-3.1.2 1.97E-05
25519 6 I/T 11 rs376185524 0.5383 None 1000 genomes 1.99681E-04
25519 6 I/T 11 rs376185524 0.5383 None gnomAD-4.0.0 2.41808E-05
25520 7 I/T 13 rs1553601714 0.2541 None gnomAD-4.0.0 1.36904E-06
25522 9 I/T 16 rs372963832 0.1844 None gnomAD-2.1.1 4.04E-06
25522 9 I/T 16 rs372963832 0.1844 None gnomAD-3.1.2 1.32E-05
25522 9 I/T 16 rs372963832 0.1844 None gnomAD-4.0.0 1.67399E-05
25522 9 I/V 16 rs1403999176 0.1844 None gnomAD-3.1.2 1.97E-05
25522 9 I/V 16 rs1403999176 0.1844 None gnomAD-4.0.0 5.12934E-06
25523 10 R/S 18 None 0.6649 None gnomAD-4.0.0 6.84503E-07
25524 11 A/T 23 rs766397845 0.3844 None gnomAD-2.1.1 4.04E-06
25525 12 G/D 24 rs1428374737 0.3773 None gnomAD-2.1.1 4.04E-06
25525 12 G/D 24 rs1428374737 0.3773 None gnomAD-4.0.0 1.5928E-06
25525 12 G/S 24 None 0.3773 None gnomAD-4.0.0 1.59282E-06
25525 12 G/V 24 rs1428374737 0.3773 None gnomAD-3.1.2 6.58E-06
25525 12 G/V 24 rs1428374737 0.3773 None gnomAD-4.0.0 6.57869E-06
25526 13 G/A 25 None 0.2257 None gnomAD-4.0.0 6.8455E-07
25526 13 G/D 25 rs369344156 0.2257 None gnomAD-2.1.1 3.19E-05
25526 13 G/D 25 rs369344156 0.2257 None gnomAD-3.1.2 1.32E-05
25526 13 G/D 25 rs369344156 0.2257 None gnomAD-4.0.0 1.92212E-05
25526 13 G/S 25 rs1246585720 0.2257 None gnomAD-2.1.1 4.04E-06
25526 13 G/S 25 rs1246585720 0.2257 None gnomAD-4.0.0 1.59277E-06
25526 13 G/V 25 None 0.2257 None gnomAD-4.0.0 6.8455E-07
25529 16 R/K 29 rs750282861 0.6950 None gnomAD-2.1.1 2.42E-05
25529 16 R/K 29 rs750282861 0.6950 None gnomAD-4.0.0 4.10715E-06
25530 17 L/F 30 rs184034300 0.1636 None gnomAD-2.1.1 1.79143E-04
25530 17 L/F 30 rs184034300 0.1636 None gnomAD-3.1.2 1.38167E-04
25530 17 L/F 30 rs184034300 0.1636 None 1000 genomes 1.99681E-04
25530 17 L/F 30 rs184034300 0.1636 None gnomAD-4.0.0 6.84613E-07
25530 17 L/S 30 rs1465564864 0.1636 None gnomAD-2.1.1 4.04E-06
25530 17 L/S 30 rs1465564864 0.1636 None gnomAD-3.1.2 6.58E-06
25530 17 L/S 30 rs1465564864 0.1636 None gnomAD-4.0.0 1.86024E-06
25531 18 F/I 31 rs878933531 0.4086 None gnomAD-4.0.0 3.60097E-06
25531 18 F/S 31 rs976954474 0.4086 None gnomAD-2.1.1 7.16E-06
25531 18 F/S 31 rs976954474 0.4086 None gnomAD-3.1.2 1.32E-05
25531 18 F/S 31 rs976954474 0.4086 None gnomAD-4.0.0 3.10039E-06
25532 19 V/A 33 rs55984930 0.2500 None gnomAD-2.1.1 2.83E-05
25532 19 V/A 33 rs55984930 0.2500 None gnomAD-4.0.0 7.5315E-06
25532 19 V/F 33 rs1358589426 0.2500 None gnomAD-2.1.1 4.04E-06
25532 19 V/F 33 rs1358589426 0.2500 None gnomAD-4.0.0 2.73847E-06
25532 19 V/L 33 None 0.2500 None gnomAD-4.0.0 6.84618E-07
25533 20 P/S 34 rs1707347772 0.4830 None gnomAD-4.0.0 3.60097E-06
25534 21 I/L 35 rs1245433477 0.1459 None gnomAD-2.1.1 4.04E-06
25534 21 I/L 35 rs1245433477 0.1459 None gnomAD-4.0.0 6.84689E-07
25534 21 I/V 35 rs1245433477 0.1459 None gnomAD-2.1.1 4.04E-06
25534 21 I/V 35 rs1245433477 0.1459 None gnomAD-4.0.0 6.84689E-07
25536 23 G/C 40 rs764082866 0.3423 None gnomAD-2.1.1 4.04E-06
25536 23 G/C 40 rs764082866 0.3423 None gnomAD-4.0.0 1.59382E-06
25536 23 G/D 40 rs1021201663 0.3423 None gnomAD-3.1.2 6.58E-06
25536 23 G/D 40 rs1021201663 0.3423 None gnomAD-4.0.0 6.57895E-06
25536 23 G/V 40 rs1021201663 0.3423 None gnomAD-4.0.0 1.59386E-06
25537 24 R/C 41 rs527631472 0.8030 None gnomAD-2.1.1 8.07E-06
25537 24 R/C 41 rs527631472 0.8030 None gnomAD-3.1.2 1.32E-05
25537 24 R/C 41 rs527631472 0.8030 None 1000 genomes 1.99681E-04
25537 24 R/C 41 rs527631472 0.8030 None gnomAD-4.0.0 3.10092E-06
25537 24 R/G 41 rs527631472 0.8030 None gnomAD-2.1.1 4.04E-06
25537 24 R/G 41 rs527631472 0.8030 None gnomAD-4.0.0 2.05425E-06
25537 24 R/H 41 rs561977468 0.8030 None gnomAD-2.1.1 1.397E-04
25537 24 R/H 41 rs561977468 0.8030 None gnomAD-3.1.2 8.55E-05
25537 24 R/H 41 rs561977468 0.8030 None 1000 genomes 1.99681E-04
25537 24 R/H 41 rs561977468 0.8030 None gnomAD-4.0.0 4.65074E-05
25539 26 T/I 43 rs746337217 0.5186 None gnomAD-2.1.1 8.07E-06
25539 26 T/I 43 rs746337217 0.5186 None gnomAD-4.0.0 2.73857E-06
25540 27 P/L 44 rs541464855 0.1915 None gnomAD-2.1.1 4.03E-06
25540 27 P/L 44 rs541464855 0.1915 None gnomAD-4.0.0 6.84695E-07
25540 27 P/Q 44 rs541464855 0.1915 None gnomAD-2.1.1 3.19E-05
25540 27 P/Q 44 rs541464855 0.1915 None gnomAD-3.1.2 1.97E-05
25540 27 P/Q 44 rs541464855 0.1915 None 1000 genomes 1.99681E-04
25540 27 P/Q 44 rs541464855 0.1915 None gnomAD-4.0.0 4.96085E-06
25541 28 E/G 45 None 0.6992 None gnomAD-4.0.0 1.59406E-06
25542 29 V/F 46 rs771230325 0.2651 None gnomAD-3.1.2 6.58E-06
25542 29 V/F 46 rs771230325 0.2651 None gnomAD-4.0.0 1.2403E-06
25542 29 V/I 46 None 0.2651 None gnomAD-2.1.1 8.07E-06
25542 29 V/I 46 None 0.2651 None gnomAD-4.0.0 4.10833E-06
25543 30 K/E 47 rs372016541 0.5353 None gnomAD-2.1.1 1.43E-05
25543 30 K/E 47 rs372016541 0.5353 None gnomAD-3.1.2 1.97E-05
25543 30 K/E 47 rs372016541 0.5353 None gnomAD-4.0.0 4.34098E-06
25543 30 K/R 47 None 0.5353 None gnomAD-4.0.0 1.20033E-06
25545 32 G/R 49 rs575965326 0.2341 None gnomAD-2.1.1 4.03E-06
25545 32 G/R 49 rs575965326 0.2341 None gnomAD-3.1.2 6.58E-06
25545 32 G/R 49 rs575965326 0.2341 None 1000 genomes 1.99681E-04
25545 32 G/R 49 rs575965326 0.2341 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 0.4277 None gnomAD-2.1.1 8.06E-06
25547 34 V/M 51 rs1429730962 0.4277 None gnomAD-4.0.0 6.84674E-06
25548 35 D/V 52 None 1.0892 None gnomAD-4.0.0 1.59375E-06
25549 36 G/S 55 rs181166140 0.4018 None gnomAD-2.1.1 3.29308E-04
25549 36 G/S 55 rs181166140 0.4018 None gnomAD-3.1.2 1.13751E-03
25549 36 G/S 55 rs181166140 0.4018 None 1000 genomes 7.98722E-04
25549 36 G/S 55 rs181166140 0.4018 None gnomAD-4.0.0 1.79821E-04
25551 38 I/M 58 None 0.2670 None gnomAD-4.0.0 1.59383E-06
25552 39 R/G 69 rs545954490 0.3655 None gnomAD-2.1.1 3.19E-05
25552 39 R/Q 69 rs779399871 0.3655 None gnomAD-2.1.1 1.21E-05
25552 39 R/Q 69 rs779399871 0.3655 None gnomAD-4.0.0 1.23246E-05
25553 40 D/E 70 rs1453473992 1.1352 None gnomAD-2.1.1 4.03E-06
25553 40 D/G 70 rs1197063716 1.1352 None gnomAD-2.1.1 4.03E-06
25553 40 D/G 70 rs1197063716 1.1352 None gnomAD-4.0.0 3.18749E-06
25553 40 D/N 70 rs1246439715 1.1352 None gnomAD-2.1.1 4.03E-06
25553 40 D/N 70 rs1246439715 1.1352 None gnomAD-4.0.0 1.59378E-06
25554 41 A/G 73 rs879087699 0.4407 None gnomAD-2.1.1 7.16E-06
25554 41 A/G 73 rs879087699 0.4407 None gnomAD-3.1.2 3.29E-05
25554 41 A/G 73 rs879087699 0.4407 None gnomAD-4.0.0 4.34072E-06
25555 42 A/V 102 rs1035031578 0.1874 None gnomAD-2.1.1 3.19E-05
25555 42 A/V 102 rs1035031578 0.1874 None gnomAD-3.1.2 1.32E-05
25555 42 A/V 102 rs1035031578 0.1874 None gnomAD-4.0.0 6.2008E-06
25556 43 I/V 122 rs1707317089 0.6815 None gnomAD-4.0.0 6.846E-06
25557 44 I/T 123 rs758441370 0.3150 None gnomAD-2.1.1 8.07E-06
25557 44 I/T 123 rs758441370 0.3150 None gnomAD-4.0.0 3.42287E-06
25558 45 D/V 125 rs201095164 0.6468 None gnomAD-2.1.1 1.93332E-04
25558 45 D/V 125 rs201095164 0.6468 None gnomAD-3.1.2 1.05201E-04
25558 45 D/V 125 rs201095164 0.6468 None gnomAD-4.0.0 9.11376E-05
25558 45 D/Y 125 rs750336110 0.6468 None gnomAD-2.1.1 1.21E-05
25558 45 D/Y 125 rs750336110 0.6468 None gnomAD-4.0.0 5.47669E-06
25562 49 S/G 134 rs1400963847 0.3687 None gnomAD-2.1.1 3.19E-05
25562 49 S/G 134 rs1400963847 0.3687 None gnomAD-3.1.2 6.57E-06
25562 49 S/G 134 rs1400963847 0.3687 None gnomAD-4.0.0 6.57454E-06
25563 50 F/Y 135 rs1273963065 0.2318 None gnomAD-2.1.1 4.03E-06
25563 50 F/Y 135 rs1273963065 0.2318 None gnomAD-4.0.0 4.77775E-06
25565 52 S/P 137 rs753679035 0.1735 None gnomAD-2.1.1 8.07E-06
25565 52 S/P 137 rs753679035 0.1735 None gnomAD-4.0.0 8.21342E-06
25566 53 L/P 138 rs1323717498 0.1055 None gnomAD-2.1.1 4.03E-06
25566 53 L/P 138 rs1323717498 0.1055 None gnomAD-4.0.0 1.36888E-06
25566 53 L/V 138 rs1332447067 0.1055 None gnomAD-2.1.1 4.03E-06
25566 53 L/V 138 rs1332447067 0.1055 None gnomAD-4.0.0 1.36889E-06
25567 54 V/F 139 rs3813244 0.2662 None gnomAD-2.1.1 2.07653E-04
25567 54 V/F 139 rs3813244 0.2662 None gnomAD-3.1.2 1.18356E-04
25567 54 V/F 139 rs3813244 0.2662 None 1000 genomes 5.99042E-04
25567 54 V/F 139 rs3813244 0.2662 None gnomAD-4.0.0 1.45048E-04
25567 54 V/I 139 None 0.2662 None gnomAD-4.0.0 6.84436E-07
25568 55 L/P 140 None 0.1458 None gnomAD-4.0.0 1.36885E-06
25569 56 D/E 141 rs1002726225 0.6273 None gnomAD-4.0.0 2.73767E-06
25569 56 D/H 141 None 0.6273 None gnomAD-4.0.0 1.5924E-06
25570 57 N/K 143 None 0.7344 None gnomAD-4.0.0 1.59235E-06
25570 57 N/S 143 None 0.7344 None gnomAD-4.0.0 1.59235E-06
25571 58 V/I 144 rs760782774 0.0997 None gnomAD-2.1.1 4.03E-06
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
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
25574 61 Y/F 148 rs1199417769 0.7429 None gnomAD-3.1.2 6.58E-06
25574 61 Y/F 148 rs1199417769 0.7429 None gnomAD-4.0.0 6.57549E-06
25574 61 Y/H 148 rs3813245 0.7429 None gnomAD-2.1.1 2.57529E-02
25574 61 Y/H 148 rs3813245 0.7429 None gnomAD-3.1.2 2.02286E-02
25574 61 Y/H 148 rs3813245 0.7429 None 1000 genomes 2.23642E-02
25574 61 Y/H 148 rs3813245 0.7429 None gnomAD-4.0.0 2.29074E-02
25575 62 D/N 149 rs749711979 0.1484 None gnomAD-2.1.1 1.07E-05
25575 62 D/N 149 rs749711979 0.1484 None gnomAD-3.1.2 1.97E-05
25575 62 D/N 149 rs749711979 0.1484 None gnomAD-4.0.0 4.33919E-06
25576 63 S/N 151 rs1184700085 0.2330 None gnomAD-3.1.2 6.58E-06
25576 63 S/N 151 rs1184700085 0.2330 None gnomAD-4.0.0 6.57678E-06
25576 63 S/R 151 None 0.2330 None gnomAD-4.0.0 1.59225E-06
25576 63 S/T 151 None 0.2330 None gnomAD-4.0.0 1.32035E-05
25577 64 G/R 152 rs1482128356 0.2334 None gnomAD-2.1.1 4.03E-06
25579 66 Y/C 154 rs1707280961 0.1490 None gnomAD-3.1.2 6.58E-06
25579 66 Y/C 154 rs1707280961 0.1490 None gnomAD-4.0.0 5.07512E-06
25579 66 Y/H 154 rs1254023475 0.1490 None gnomAD-2.1.1 4.03E-06
25579 66 Y/H 154 rs1254023475 0.1490 None gnomAD-4.0.0 1.36877E-06
25580 67 T/A 155 rs371711135 0.2720 None gnomAD-2.1.1 2.15E-05
25580 67 T/A 155 rs371711135 0.2720 None gnomAD-3.1.2 9.86E-05
25580 67 T/A 155 rs371711135 0.2720 None gnomAD-4.0.0 1.6736E-05
25580 67 T/K 155 rs56372592 0.2720 None gnomAD-2.1.1 2.11159E-04
25580 67 T/K 155 rs56372592 0.2720 None gnomAD-3.1.2 2.36774E-04
25580 67 T/K 155 rs56372592 0.2720 None gnomAD-4.0.0 6.51499E-04
25580 67 T/M 155 rs56372592 0.2720 None gnomAD-2.1.1 1.61769E-03
25580 67 T/M 155 rs56372592 0.2720 None gnomAD-3.1.2 9.3394E-04
25580 67 T/M 155 rs56372592 0.2720 None 1000 genomes 4.59265E-03
25580 67 T/M 155 rs56372592 0.2720 None gnomAD-4.0.0 5.79551E-04
25580 67 T/R 155 None 0.2720 None gnomAD-4.0.0 6.84389E-07
25584 71 E/K 159 rs1217257725 0.4880 None gnomAD-2.1.1 4.03E-06
25584 71 E/K 159 rs1217257725 0.4880 None gnomAD-4.0.0 2.73746E-06
25585 72 N/K 161 rs1171173179 0.1912 None gnomAD-2.1.1 3.19E-05
25585 72 N/K 161 rs1171173179 0.1912 None gnomAD-3.1.2 1.97E-05
25585 72 N/K 161 rs1171173179 0.1912 None gnomAD-4.0.0 1.20032E-06
25586 73 S/G 162 rs757243379 0.6695 None gnomAD-2.1.1 8.06E-06
25586 73 S/G 162 rs757243379 0.6695 None gnomAD-4.0.0 5.47488E-06
25586 73 S/I 162 None 0.6695 None gnomAD-4.0.0 1.20032E-06
25586 73 S/R 162 rs757243379 0.6695 None gnomAD-2.1.1 2.86E-05
25586 73 S/R 162 rs757243379 0.6695 None gnomAD-3.1.2 6.58E-06
25586 73 S/R 162 rs757243379 0.6695 None gnomAD-4.0.0 2.47934E-06
25587 74 S/N 163 None 0.6715 None gnomAD-4.0.0 1.20033E-06
25588 75 G/R 164 rs1275050402 0.3540 None gnomAD-2.1.1 4.03E-06
25588 75 G/R 164 rs1275050402 0.3540 None gnomAD-3.1.2 6.58E-06
25588 75 G/R 164 rs1275050402 0.3540 None gnomAD-4.0.0 2.5636E-06
25589 76 T/A 165 rs794729499 0.5410 None gnomAD-2.1.1 4.03E-06
25589 76 T/A 165 rs794729499 0.5410 None gnomAD-3.1.2 6.57E-06
25589 76 T/A 165 rs794729499 0.5410 None gnomAD-4.0.0 3.71902E-06
25590 77 K/N 166 rs1707266415 0.8254 None gnomAD-3.1.2 6.57E-06
25590 77 K/N 166 rs1707266415 0.8254 None gnomAD-4.0.0 6.57497E-06
25590 77 K/R 166 rs1348119178 0.8254 None gnomAD-2.1.1 4.03E-06
25590 77 K/R 166 rs1348119178 0.8254 None gnomAD-4.0.0 1.59207E-06
25592 79 A/T 169 None 0.4752 None gnomAD-4.0.0 3.18432E-06
25592 79 A/V 169 rs1707265300 0.4752 None gnomAD-4.0.0 1.59217E-06
25593 80 F/Y 171 rs547186080 0.6050 None gnomAD-2.1.1 7.15E-06
25593 80 F/Y 171 rs547186080 0.6050 None gnomAD-3.1.2 1.31E-05
25593 80 F/Y 171 rs547186080 0.6050 None gnomAD-4.0.0 8.0579E-06
25598 85 V/I 177 rs763761448 0.1624 None gnomAD-2.1.1 8.06E-06
25598 85 V/I 177 rs763761448 0.1624 None gnomAD-4.0.0 1.59212E-06