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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
Y F D G L I I K S G E S L R I K A L V Q G R P V P R V T W F K D G V E I E K R M N M E I T D V L G S T S L F V R D A T R D H R G V Y T V E A K N A S G S A K A E I K V K V Q
Y F D G L I I K S G E S L R I K A L V Q G R P V P R V T W F K D G V E I E K R M N M E I T D V L G S T S L F V R D A T R D H R G V Y T V E A K N A S G S A K A E I K V K V -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
30533 2 F/S 8 rs1427348681 1.3200 None gnomAD-2.1.1 3.19E-05
30533 2 F/S 8 rs1427348681 1.3200 None gnomAD-3.1.2 6.57E-06
30533 2 F/S 8 rs1427348681 1.3200 None gnomAD-4.0.0 1.85964E-06
30533 2 F/Y 8 None 1.3200 None gnomAD-4.0.0 6.84454E-07
30534 3 D/V 9 rs182549226 1.1396 None gnomAD-2.1.1 8.08552E-04
30534 3 D/V 9 rs182549226 1.1396 None gnomAD-3.1.2 6.37713E-04
30534 3 D/V 9 rs182549226 1.1396 None 1000 genomes 3.99361E-04
30534 3 D/V 9 rs182549226 1.1396 None gnomAD-4.0.0 9.38475E-04
30535 4 G/D 11 rs374896493 0.2875 None gnomAD-2.1.1 4.03E-06
30535 4 G/D 11 rs374896493 0.2875 None gnomAD-4.0.0 3.18528E-06
30535 4 G/S 11 None 0.2875 None gnomAD-4.0.0 3.18505E-06
30535 4 G/V 11 rs374896493 0.2875 None gnomAD-2.1.1 3.19E-05
30535 4 G/V 11 rs374896493 0.2875 None gnomAD-3.1.2 1.32E-05
30535 4 G/V 11 rs374896493 0.2875 None gnomAD-4.0.0 1.31553E-05
30536 5 L/F 13 rs1177911560 0.2500 None gnomAD-2.1.1 4.03E-06
30536 5 L/F 13 rs1177911560 0.2500 None gnomAD-4.0.0 1.59241E-06
30537 6 I/N 14 None 0.4674 None gnomAD-4.0.0 6.84354E-07
30537 6 I/S 14 rs758126299 0.4674 None gnomAD-2.1.1 4.03E-06
30537 6 I/S 14 rs758126299 0.4674 None gnomAD-4.0.0 2.73742E-06
30538 7 I/T 16 rs1231839154 0.1436 None gnomAD-4.0.0 1.20035E-06
30538 7 I/V 16 None 0.1436 None gnomAD-4.0.0 1.59192E-06
30539 8 K/R 18 rs1553536395 0.5938 None gnomAD-2.1.1 4.03E-06
30539 8 K/R 18 rs1553536395 0.5938 None gnomAD-4.0.0 5.47454E-06
30540 9 S/F 23 rs770769474 0.5864 None gnomAD-2.1.1 4.03E-06
30540 9 S/F 23 rs770769474 0.5864 None gnomAD-3.1.2 1.32E-05
30540 9 S/F 23 rs770769474 0.5864 None gnomAD-4.0.0 4.33875E-06
30541 10 G/E 24 None 0.3050 None gnomAD-4.0.0 2.05288E-06
30541 10 G/R 24 rs200854704 0.3050 None gnomAD-2.1.1 7.86E-05
30541 10 G/R 24 rs200854704 0.3050 None gnomAD-3.1.2 1.05208E-04
30541 10 G/R 24 rs200854704 0.3050 None gnomAD-4.0.0 1.36976E-04
30542 11 E/D 25 rs761453557 0.3003 None gnomAD-4.0.0 6.84292E-07
30542 11 E/K 25 rs1276009602 0.3003 None gnomAD-2.1.1 4.02E-06
30542 11 E/K 25 rs1276009602 0.3003 None gnomAD-4.0.0 1.59165E-06
30542 11 E/V 25 None 0.3003 None gnomAD-4.0.0 1.20034E-06
30543 12 S/R 26 rs1043582121 0.2563 None gnomAD-4.0.0 4.1057E-06
30544 13 L/F 28 rs775973411 0.1398 None gnomAD-2.1.1 4.02E-06
30544 13 L/F 28 rs775973411 0.1398 None gnomAD-4.0.0 1.59158E-06
30545 14 R/K 29 None 0.3917 None gnomAD-4.0.0 1.20038E-06
30548 17 A/P 33 rs369043548 0.2202 None gnomAD-2.1.1 1.61E-05
30548 17 A/P 33 rs369043548 0.2202 None gnomAD-4.0.0 6.15812E-06
30548 17 A/V 33 rs553668520 0.2202 None gnomAD-2.1.1 8.76854E-04
30548 17 A/V 33 rs553668520 0.2202 None gnomAD-3.1.2 2.8275E-04
30548 17 A/V 33 rs553668520 0.2202 None 1000 genomes 1.79712E-03
30548 17 A/V 33 rs553668520 0.2202 None gnomAD-4.0.0 4.01566E-04
30549 18 L/V 34 None 0.9502 None gnomAD-4.0.0 1.20033E-06
30550 19 V/I 35 None 0.2412 None gnomAD-4.0.0 1.59137E-06
30551 20 Q/K 38 None 0.9408 None gnomAD-4.0.0 1.20033E-06
30551 20 Q/R 38 rs775297990 0.9408 None gnomAD-2.1.1 8.04E-06
30551 20 Q/R 38 rs775297990 0.9408 None gnomAD-4.0.0 2.73687E-06
30552 21 G/V 40 None 0.3218 None gnomAD-4.0.0 1.20032E-06
30553 22 R/S 41 rs1257917653 0.9593 None gnomAD-2.1.1 3.19E-05
30553 22 R/S 41 rs1257917653 0.9593 None gnomAD-3.1.2 6.57E-06
30553 22 R/S 41 rs1257917653 0.9593 None gnomAD-4.0.0 6.57177E-06
30554 23 P/L 42 rs1698777400 0.6561 None gnomAD-4.0.0 1.43684E-05
30554 23 P/Q 42 None 0.6561 None gnomAD-4.0.0 6.84211E-07
30555 24 V/A 43 rs1698774986 0.4875 None gnomAD-4.0.0 1.36842E-06
30555 24 V/M 43 rs771790427 0.4875 None gnomAD-2.1.1 4.02E-06
30555 24 V/M 43 rs771790427 0.4875 None gnomAD-4.0.0 1.59126E-06
30556 25 P/L 44 None 0.2220 None gnomAD-4.0.0 1.36842E-06
30557 26 R/P 45 None 0.8230 None gnomAD-4.0.0 6.84218E-07
30557 26 R/Q 45 rs745646703 0.8230 None gnomAD-2.1.1 1.21E-05
30557 26 R/Q 45 rs745646703 0.8230 None gnomAD-3.1.2 6.57E-06
30557 26 R/Q 45 rs745646703 0.8230 None gnomAD-4.0.0 1.79719E-05
30559 28 T/I 47 rs1204855591 0.3708 None gnomAD-2.1.1 3.19E-05
30559 28 T/I 47 rs1204855591 0.3708 None gnomAD-3.1.2 6.58E-06
30559 28 T/I 47 rs1204855591 0.3708 None gnomAD-4.0.0 6.57756E-06
30559 28 T/P 47 rs774619016 0.3708 None gnomAD-2.1.1 4.02E-06
30559 28 T/P 47 rs774619016 0.3708 None gnomAD-4.0.0 1.59128E-06
30560 29 W/C 48 None 0.1390 None gnomAD-4.0.0 1.20032E-06
30561 30 F/L 49 rs1410003060 0.2096 None gnomAD-2.1.1 7.14E-06
30561 30 F/L 49 rs1410003060 0.2096 None gnomAD-3.1.2 6.58E-06
30561 30 F/L 49 rs1410003060 0.2096 None gnomAD-4.0.0 3.0457E-06
30561 30 F/Y 49 None 0.2096 None gnomAD-4.0.0 1.59127E-06
30564 33 G/V 52 rs1177595616 0.4818 None gnomAD-2.1.1 4.02E-06
30564 33 G/V 52 rs1177595616 0.4818 None gnomAD-4.0.0 1.59125E-06
30565 34 V/M 55 None 0.6648 None gnomAD-4.0.0 1.59124E-06
30567 36 I/T 58 rs1472322542 0.2093 None gnomAD-2.1.1 4.02E-06
30567 36 I/T 58 rs1472322542 0.2093 None gnomAD-4.0.0 1.59126E-06
30568 37 E/K 59 rs567700310 0.8269 None gnomAD-2.1.1 5.63E-05
30568 37 E/K 59 rs567700310 0.8269 None gnomAD-3.1.2 6.58E-06
30568 37 E/K 59 rs567700310 0.8269 None 1000 genomes 1.99681E-04
30568 37 E/K 59 rs567700310 0.8269 None gnomAD-4.0.0 2.16891E-05
30569 38 K/N 70 rs1060500543 0.7317 None gnomAD-2.1.1 4.02E-06
30569 38 K/N 70 rs1060500543 0.7317 None gnomAD-3.1.2 1.31E-05
30569 38 K/N 70 rs1060500543 0.7317 None gnomAD-4.0.0 9.2954E-06
30570 39 R/T 73 None 0.6803 None gnomAD-4.0.0 1.59126E-06
30571 40 M/I 111 rs1284689627 1.0859 None gnomAD-2.1.1 4.02E-06
30571 40 M/I 111 rs1284689627 1.0859 None gnomAD-4.0.0 1.5912E-06
30571 40 M/T 111 rs1392457168 1.0859 None gnomAD-4.0.0 1.36843E-06
30571 40 M/V 111 rs777664993 1.0859 None gnomAD-2.1.1 4.02E-06
30571 40 M/V 111 rs777664993 1.0859 None gnomAD-4.0.0 4.10525E-06
30573 42 M/I 121 rs756674702 0.2146 None gnomAD-2.1.1 4.02E-06
30573 42 M/I 121 rs756674702 0.2146 None gnomAD-4.0.0 1.59126E-06
30574 43 E/V 122 rs1308285808 0.6677 None gnomAD-2.1.1 4.02E-06
30574 43 E/V 122 rs1308285808 0.6677 None gnomAD-4.0.0 2.05259E-06
30576 45 T/A 125 None 0.5555 None gnomAD-4.0.0 1.20032E-06
30576 45 T/N 125 rs1170381961 0.5555 None gnomAD-3.1.2 6.57E-06
30576 45 T/N 125 rs1170381961 0.5555 None gnomAD-4.0.0 6.57471E-06
30577 46 D/E 127 rs727505073 0.5535 None gnomAD-3.1.2 6.57E-06
30577 46 D/E 127 rs727505073 0.5535 None gnomAD-4.0.0 2.47883E-06
30577 46 D/N 127 rs781699152 0.5535 None gnomAD-2.1.1 1.21E-05
30577 46 D/N 127 rs781699152 0.5535 None gnomAD-4.0.0 4.7894E-06
30578 47 V/I 130 rs727504672 0.5923 None gnomAD-2.1.1 9.27E-05
30578 47 V/I 130 rs727504672 0.5923 None gnomAD-3.1.2 1.24875E-04
30578 47 V/I 130 rs727504672 0.5923 None gnomAD-4.0.0 9.4806E-05
30579 48 L/F 131 None 0.9646 None gnomAD-4.0.0 1.20032E-06
30579 48 L/P 131 rs765022890 0.9646 None gnomAD-2.1.1 4.02E-06
30579 48 L/P 131 rs765022890 0.9646 None gnomAD-3.1.2 1.97E-05
30579 48 L/P 131 rs765022890 0.9646 None gnomAD-4.0.0 3.7182E-06
30579 48 L/V 131 None 0.9646 None gnomAD-4.0.0 1.20032E-06
30580 49 G/R 134 rs1296437798 0.2909 None gnomAD-2.1.1 4.02E-06
30580 49 G/R 134 rs1296437798 0.2909 None gnomAD-4.0.0 1.59126E-06
30581 50 S/F 135 None 0.2514 None gnomAD-4.0.0 1.59126E-06
30583 52 S/N 137 rs1698731118 0.1748 None gnomAD-3.1.2 6.57E-06
30583 52 S/N 137 rs1698731118 0.1748 None gnomAD-4.0.0 6.5735E-06
30583 52 S/T 137 None 0.1748 None gnomAD-4.0.0 1.59129E-06
30585 54 F/C 139 None 0.2099 None gnomAD-4.0.0 1.59128E-06
30585 54 F/S 139 rs927256604 0.2099 None gnomAD-2.1.1 4.02E-06
30585 54 F/S 139 rs927256604 0.2099 None gnomAD-4.0.0 1.59128E-06
30585 54 F/V 139 rs1060500507 0.2099 None gnomAD-2.1.1 4.02E-06
30585 54 F/V 139 rs1060500507 0.2099 None gnomAD-4.0.0 1.59127E-06
30588 57 D/A 143 None 0.6344 None gnomAD-4.0.0 6.84216E-07
30588 57 D/G 143 rs756837722 0.6344 None gnomAD-2.1.1 7.14E-06
30588 57 D/G 143 rs756837722 0.6344 None gnomAD-3.1.2 1.31E-05
30588 57 D/G 143 rs756837722 0.6344 None gnomAD-4.0.0 3.0985E-06
30588 57 D/H 143 rs878854399 0.6344 None gnomAD-2.1.1 4.02E-06
30588 57 D/H 143 rs878854399 0.6344 None gnomAD-4.0.0 3.18262E-06
30589 58 A/T 144 rs148617456 0.1028 None gnomAD-2.1.1 3.38986E-03
30589 58 A/T 144 rs148617456 0.1028 None gnomAD-3.1.2 1.77459E-03
30589 58 A/T 144 rs148617456 0.1028 None 1000 genomes 5.99042E-03
30589 58 A/T 144 rs148617456 0.1028 None gnomAD-4.0.0 2.17191E-03
30590 59 T/N 145 None 0.4062 None gnomAD-4.0.0 1.20032E-06
30591 60 R/Q 146 rs752576185 0.7650 None gnomAD-2.1.1 3.22E-05
30591 60 R/Q 146 rs752576185 0.7650 None gnomAD-3.1.2 3.94E-05
30591 60 R/Q 146 rs752576185 0.7650 None gnomAD-4.0.0 3.78027E-05
30591 60 R/W 146 rs760668673 0.7650 None gnomAD-2.1.1 3.62E-05
30591 60 R/W 146 rs760668673 0.7650 None gnomAD-4.0.0 1.2316E-05
30592 61 D/G 148 None 0.6001 None gnomAD-4.0.0 1.20032E-06
30592 61 D/N 148 rs767435344 0.6001 None gnomAD-2.1.1 1.16561E-04
30592 61 D/N 148 rs767435344 0.6001 None gnomAD-3.1.2 1.97E-05
30592 61 D/N 148 rs767435344 0.6001 None gnomAD-4.0.0 5.08154E-05
30593 62 H/Y 149 None 0.2945 None gnomAD-4.0.0 1.59135E-06
30594 63 R/C 151 rs1399257168 0.5828 None gnomAD-2.1.1 6.37E-05
30594 63 R/C 151 rs1399257168 0.5828 None gnomAD-3.1.2 1.31E-05
30594 63 R/C 151 rs1399257168 0.5828 None gnomAD-4.0.0 6.19732E-06
30594 63 R/H 151 rs759363893 0.5828 None gnomAD-2.1.1 8.04E-06
30594 63 R/H 151 rs759363893 0.5828 None gnomAD-4.0.0 8.89506E-06
30595 64 G/D 152 rs1221459026 0.1913 None gnomAD-2.1.1 4.02E-06
30595 64 G/D 152 rs1221459026 0.1913 None gnomAD-3.1.2 1.31E-05
30595 64 G/D 152 rs1221459026 0.1913 None gnomAD-4.0.0 2.47862E-06
30596 65 V/A 153 None 0.3616 None gnomAD-4.0.0 1.20033E-06
30597 66 Y/H 154 None 0.1349 None gnomAD-4.0.0 2.40064E-06
30597 66 Y/N 154 None 0.1349 None gnomAD-4.0.0 1.20032E-06
30598 67 T/K 155 None 0.1718 None gnomAD-4.0.0 6.84254E-07
30598 67 T/R 155 rs370342796 0.1718 None gnomAD-4.0.0 3.42127E-06
30600 69 E/G 157 None 0.2735 None gnomAD-4.0.0 1.20032E-06
30601 70 A/T 158 None 0.1809 None gnomAD-4.0.0 2.05528E-06
30602 71 K/N 159 None 0.6850 None gnomAD-4.0.0 1.59638E-06
30603 72 N/H 161 rs1698703188 0.1994 None gnomAD-3.1.2 6.57E-06
30603 72 N/H 161 rs1698703188 0.1994 None gnomAD-4.0.0 2.56893E-06
30603 72 N/K 161 rs1234224065 0.1994 None gnomAD-2.1.1 4.04E-06
30603 72 N/K 161 rs1234224065 0.1994 None gnomAD-4.0.0 3.19405E-06
30603 72 N/S 161 rs794729533 0.1994 None gnomAD-4.0.0 4.11169E-06
30604 73 A/P 162 rs1340152614 0.7541 None gnomAD-2.1.1 4.04E-06
30604 73 A/P 162 rs1340152614 0.7541 None gnomAD-4.0.0 1.59744E-06
30604 73 A/V 162 rs1186406232 0.7541 None gnomAD-3.1.2 6.57E-06
30604 73 A/V 162 rs1186406232 0.7541 None gnomAD-4.0.0 2.57073E-06
30605 74 S/C 163 None 0.7359 None gnomAD-4.0.0 6.00162E-06
30605 74 S/P 163 rs984360776 0.7359 None gnomAD-4.0.0 6.85404E-07
30605 74 S/T 163 rs984360776 0.7359 None gnomAD-2.1.1 1.21E-05
30605 74 S/T 163 rs984360776 0.7359 None gnomAD-3.1.2 1.31E-05
30605 74 S/T 163 rs984360776 0.7359 None gnomAD-4.0.0 5.89642E-05
30606 75 G/A 164 None 0.3784 None gnomAD-4.0.0 3.60097E-06
30606 75 G/C 164 rs773344105 0.3784 None gnomAD-2.1.1 4.04E-06
30606 75 G/R 164 None 0.3784 None gnomAD-4.0.0 1.20032E-06
30606 75 G/V 164 None 0.3784 None gnomAD-4.0.0 1.20032E-06
30611 80 E/A 171 None 0.6309 None gnomAD-4.0.0 1.20032E-06
30611 80 E/K 171 rs769702560 0.6309 None gnomAD-2.1.1 4.06E-06
30611 80 E/K 171 rs769702560 0.6309 None gnomAD-4.0.0 1.37352E-06
30612 81 I/V 172 rs748226847 0.1706 None gnomAD-2.1.1 8.13E-06
30612 81 I/V 172 rs748226847 0.1706 None gnomAD-4.0.0 4.12034E-06
30613 82 K/E 173 None 0.6957 None gnomAD-4.0.0 1.20032E-06
30614 83 V/M 174 rs781781702 0.1333 None gnomAD-2.1.1 8.13E-06
30614 83 V/M 174 rs781781702 0.1333 None gnomAD-4.0.0 2.74792E-06