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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 90
P P W P P G K P T V K D V G K T S V R L N W T K P E H D G G A K I E S Y V I E M L K T G T D E W V R V A E G V P T T Q H L L P G L M E G Q E Y S F R V R A V N K A G E S E P S E P S D P V L C R E K L Y P P S P P R W L E V I N I T K N T A D L K W T V P E K D G G S P I T N Y I V E K R D V R R K G W Q T V D T T V K D T K C T V T P L T E G S L Y V F R V A A E N A I G Q S D Y T E I E D S V L A K D T
P P W P P G K P T V K D V G K T S V R L N W T K P E H D G G A K I E S Y V I E M L K T G T D E W V R V A E G V P T T Q H L L P G L M E G Q E Y S F R V R A V N K A G E S E P S E P S D P V L C R E - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
16551 1 P/L 1 rs1462000296 0.5584 None gnomAD-2.1.1 4.04E-06
16551 1 P/L 1 rs1462000296 0.5584 None gnomAD-4.0.0 1.59417E-06
16552 2 P/S 2 rs2056637064 0.1032 None gnomAD-3.1.2 6.58E-06
16552 2 P/S 2 rs2056637064 0.1032 None gnomAD-4.0.0 6.5812E-06
16553 3 W/C 3 None 0.6410 None gnomAD-4.0.0 1.20033E-06
16553 3 W/R 3 rs1334958583 0.6410 None gnomAD-3.1.2 6.58E-06
16553 3 W/R 3 rs1334958583 0.6410 None gnomAD-4.0.0 6.57851E-06
16554 4 P/A 4 rs1169803505 0.2808 None gnomAD-2.1.1 4.04E-06
16554 4 P/A 4 rs1169803505 0.2808 None gnomAD-3.1.2 1.32E-05
16554 4 P/A 4 rs1169803505 0.2808 None gnomAD-4.0.0 5.13306E-06
16554 4 P/L 4 None 0.2808 None gnomAD-4.0.0 2.40064E-06
16555 5 P/R 5 rs2056634324 0.1312 None gnomAD-4.0.0 1.23245E-05
16555 5 P/S 5 rs373572207 0.1312 None gnomAD-4.0.0 6.84689E-07
16555 5 P/T 5 rs373572207 0.1312 None gnomAD-2.1.1 1.21E-05
16555 5 P/T 5 rs373572207 0.1312 None gnomAD-3.1.2 2.63E-05
16555 5 P/T 5 rs373572207 0.1312 None gnomAD-4.0.0 2.35667E-05
16556 6 G/E 6 rs866384387 0.2383 None gnomAD-2.1.1 4.03E-06
16556 6 G/E 6 rs866384387 0.2383 None gnomAD-4.0.0 4.10807E-06
16556 6 G/R 6 rs1193616870 0.2383 None gnomAD-2.1.1 4.03E-06
16556 6 G/R 6 rs1193616870 0.2383 None gnomAD-4.0.0 1.59383E-06
16559 9 T/A 11 rs772176256 0.5157 None gnomAD-2.1.1 4.03E-06
16559 9 T/A 11 rs772176256 0.5157 None gnomAD-4.0.0 1.3693E-06
16559 9 T/I 11 None 0.5157 None gnomAD-4.0.0 6.84644E-07
16560 10 V/I 12 rs966629788 0.2777 None gnomAD-2.1.1 8.06E-06
16560 10 V/I 12 rs966629788 0.2777 None gnomAD-4.0.0 9.5616E-06
16563 13 V/I 15 rs2056630981 0.2757 None gnomAD-4.0.0 1.59351E-06
16564 14 G/D 16 rs759568659 0.2458 None gnomAD-2.1.1 4.03E-06
16564 14 G/D 16 rs759568659 0.2458 None gnomAD-4.0.0 1.59344E-06
16564 14 G/V 16 rs759568659 0.2458 None gnomAD-2.1.1 4.03E-06
16564 14 G/V 16 rs759568659 0.2458 None gnomAD-4.0.0 1.59344E-06
16565 15 K/E 17 rs774229828 0.4685 None gnomAD-2.1.1 4.03E-06
16565 15 K/E 17 rs774229828 0.4685 None gnomAD-4.0.0 6.846E-07
16565 15 K/Q 17 None 0.4685 None gnomAD-4.0.0 6.846E-07
16565 15 K/R 17 rs770853524 0.4685 None gnomAD-2.1.1 4.03E-06
16565 15 K/R 17 rs770853524 0.4685 None gnomAD-3.1.2 6.58E-06
16565 15 K/R 17 rs770853524 0.4685 None gnomAD-4.0.0 4.34016E-06
16566 16 T/A 18 None 0.4189 None gnomAD-4.0.0 1.20032E-06
16566 16 T/I 18 rs749465647 0.4189 None gnomAD-2.1.1 1.21E-05
16566 16 T/I 18 rs749465647 0.4189 None gnomAD-4.0.0 9.58447E-06
16566 16 T/R 18 rs749465647 0.4189 None gnomAD-3.1.2 6.58E-06
16566 16 T/R 18 rs749465647 0.4189 None gnomAD-4.0.0 9.30151E-06
16568 18 V/G 20 None 0.1270 None gnomAD-4.0.0 1.20032E-06
16568 18 V/L 20 rs748296603 0.1270 None gnomAD-2.1.1 5.37E-05
16568 18 V/L 20 rs748296603 0.1270 None gnomAD-3.1.2 1.97E-05
16568 18 V/L 20 rs748296603 0.1270 None gnomAD-4.0.0 1.36417E-05
16569 19 R/S 21 rs879180534 0.5232 None gnomAD-2.1.1 1.79E-05
16569 19 R/S 21 rs879180534 0.5232 None gnomAD-3.1.2 1.32E-05
16569 19 R/S 21 rs879180534 0.5232 None gnomAD-4.0.0 7.44105E-06
16570 20 L/F 22 rs1345231824 0.1175 None gnomAD-2.1.1 3.19E-05
16570 20 L/F 22 rs1345231824 0.1175 None gnomAD-3.1.2 6.58E-06
16570 20 L/F 22 rs1345231824 0.1175 None gnomAD-4.0.0 6.57981E-06
16571 21 N/H 23 None 0.4032 None gnomAD-4.0.0 1.59337E-06
16573 23 T/P 25 None 0.6517 None gnomAD-4.0.0 1.59337E-06
16574 24 K/N 26 None 0.7592 None gnomAD-4.0.0 1.20032E-06
16575 25 P/A 27 None 0.1642 None gnomAD-4.0.0 6.8461E-07
16575 25 P/L 27 None 0.1642 None gnomAD-4.0.0 1.20032E-06
16575 25 P/S 27 None 0.1642 None gnomAD-4.0.0 6.8461E-07
16577 27 H/Q 29 rs2115558 0.6484 None gnomAD-2.1.1 4.03E-06
16577 27 H/Q 29 rs2115558 0.6484 None gnomAD-3.1.2 6.59E-06
16577 27 H/Q 29 rs2115558 0.6484 None gnomAD-4.0.0 1.24036E-06
16577 27 H/R 29 rs752077667 0.6484 None gnomAD-2.1.1 1.21E-05
16577 27 H/R 29 rs752077667 0.6484 None gnomAD-3.1.2 6.58E-06
16577 27 H/R 29 rs752077667 0.6484 None gnomAD-4.0.0 8.97936E-06
16580 30 G/D 32 rs1465327751 0.6508 None gnomAD-2.1.1 4.03E-06
16580 30 G/D 32 rs1465327751 0.6508 None gnomAD-3.1.2 1.32E-05
16580 30 G/D 32 rs1465327751 0.6508 None gnomAD-4.0.0 8.97949E-06
16580 30 G/S 32 None 0.6508 None gnomAD-4.0.0 1.08029E-05
16581 31 A/T 33 None 0.2737 None gnomAD-4.0.0 2.73841E-06
16582 32 K/N 34 rs760072934 0.6956 None gnomAD-2.1.1 7.16E-06
16582 32 K/N 34 rs760072934 0.6956 None gnomAD-3.1.2 6.58E-06
16582 32 K/N 34 rs760072934 0.6956 None gnomAD-4.0.0 3.10049E-06
16582 32 K/T 34 rs1175062582 0.6956 None gnomAD-2.1.1 4.03E-06
16582 32 K/T 34 rs1175062582 0.6956 None gnomAD-4.0.0 1.59344E-06
16583 33 I/T 35 rs372866841 0.1881 None gnomAD-2.1.1 7.16E-06
16583 33 I/T 35 rs372866841 0.1881 None gnomAD-3.1.2 1.32E-05
16583 33 I/T 35 rs372866841 0.1881 None gnomAD-4.0.0 6.20118E-06
16586 36 Y/H 38 rs767149437 0.1457 None gnomAD-2.1.1 4.03E-06
16586 36 Y/H 38 rs767149437 0.1457 None gnomAD-4.0.0 3.18706E-06
16587 37 V/A 39 None 0.1656 None gnomAD-4.0.0 1.59351E-06
16587 37 V/G 39 None 0.1656 None gnomAD-4.0.0 1.59351E-06
16588 38 I/T 40 rs1352705790 0.1058 None gnomAD-2.1.1 3.19E-05
16588 38 I/T 40 rs1352705790 0.1058 None gnomAD-3.1.2 6.58E-06
16588 38 I/T 40 rs1352705790 0.1058 None gnomAD-4.0.0 2.48049E-06
16588 38 I/V 40 rs1251831852 0.1058 None gnomAD-4.0.0 2.73852E-06
16590 40 M/I 42 rs774495753 0.1530 None gnomAD-2.1.1 1.21E-05
16590 40 M/I 42 rs774495753 0.1530 None gnomAD-3.1.2 6.58E-06
16590 40 M/I 42 rs774495753 0.1530 None gnomAD-4.0.0 2.1084E-05
16591 41 L/R 43 None 0.1408 None gnomAD-4.0.0 1.59354E-06
16592 42 K/R 44 rs1017317726 0.3400 None gnomAD-2.1.1 4.03E-05
16592 42 K/R 44 rs1017317726 0.3400 None gnomAD-3.1.2 6.58E-06
16592 42 K/R 44 rs1017317726 0.3400 None gnomAD-4.0.0 1.41114E-05
16595 45 T/I 60 rs1235386202 0.3891 None gnomAD-4.0.0 1.24018E-06
16595 45 T/R 60 rs1235386202 0.3891 None gnomAD-3.1.2 6.58E-06
16595 45 T/R 60 rs1235386202 0.3891 None gnomAD-4.0.0 3.10068E-06
16596 46 D/A 63 rs1353241545 1.0404 None gnomAD-2.1.1 4.03E-06
16596 46 D/A 63 rs1353241545 1.0404 None gnomAD-4.0.0 1.5935E-06
16597 47 E/D 64 None 0.8301 None gnomAD-4.0.0 1.20032E-06
16599 49 V/I 66 rs1553699620 0.4971 None gnomAD-4.0.0 2.73846E-06
16600 50 R/T 67 rs762853490 0.4246 None gnomAD-2.1.1 4.03E-06
16600 50 R/T 67 rs762853490 0.4246 None gnomAD-4.0.0 1.59351E-06
16601 51 V/A 68 None 0.3279 None gnomAD-4.0.0 1.36927E-06
16601 51 V/G 68 rs1337504534 0.3279 None gnomAD-2.1.1 4.03E-06
16601 51 V/G 68 rs1337504534 0.3279 None gnomAD-4.0.0 6.84637E-07
16601 51 V/L 68 rs773271774 0.3279 None gnomAD-2.1.1 7.88E-05
16601 51 V/L 68 rs773271774 0.3279 None gnomAD-3.1.2 5.92E-05
16601 51 V/L 68 rs773271774 0.3279 None gnomAD-4.0.0 4.58889E-05
16602 52 A/T 69 rs375970324 0.2038 None gnomAD-2.1.1 1.07E-05
16602 52 A/T 69 rs375970324 0.2038 None gnomAD-3.1.2 1.32E-05
16602 52 A/T 69 rs375970324 0.2038 None gnomAD-4.0.0 7.69815E-06
16602 52 A/V 69 rs748344757 0.2038 None gnomAD-2.1.1 1.61E-05
16602 52 A/V 69 rs748344757 0.2038 None gnomAD-4.0.0 1.11556E-05
16604 54 G/R 75 rs890124853 0.4021 None gnomAD-4.0.0 1.20032E-06
16605 55 V/I 77 None 0.1379 None gnomAD-4.0.0 2.40064E-06
16606 56 P/S 83 rs540303634 0.6326 None gnomAD-2.1.1 2.42E-05
16606 56 P/S 83 rs540303634 0.6326 None gnomAD-3.1.2 2.63E-05
16606 56 P/S 83 rs540303634 0.6326 None 1000 genomes 3.99361E-04
16606 56 P/S 83 rs540303634 0.6326 None gnomAD-4.0.0 2.97672E-05
16607 57 T/I 88 rs747514142 0.4835 None gnomAD-2.1.1 4.04E-06
16607 57 T/I 88 rs747514142 0.4835 None gnomAD-4.0.0 3.18758E-06
16610 60 H/Q 91 None 0.4068 None gnomAD-4.0.0 3.18759E-06
16611 61 L/F 92 rs758670411 0.4818 None gnomAD-2.1.1 8.07E-06
16611 61 L/F 92 rs758670411 0.4818 None gnomAD-4.0.0 1.59379E-06
16612 62 L/F 93 rs750840061 0.2022 None gnomAD-2.1.1 4.04E-06
16612 62 L/F 93 rs750840061 0.2022 None gnomAD-3.1.2 6.58E-06
16612 62 L/F 93 rs750840061 0.2022 None gnomAD-4.0.0 2.56628E-06
16612 62 L/P 93 rs779177073 0.2022 None gnomAD-2.1.1 1.21E-05
16612 62 L/P 93 rs779177073 0.2022 None gnomAD-3.1.2 6.58E-06
16612 62 L/P 93 rs779177073 0.2022 None gnomAD-4.0.0 7.69884E-06
16613 63 P/A 94 rs1468557688 0.6408 None gnomAD-2.1.1 3.19E-05
16613 63 P/A 94 rs1468557688 0.6408 None gnomAD-3.1.2 1.32E-05
16613 63 P/A 94 rs1468557688 0.6408 None gnomAD-4.0.0 5.58175E-06
16613 63 P/S 94 None 0.6408 None gnomAD-4.0.0 6.8468E-07
16614 64 G/V 96 None 0.5562 None gnomAD-4.0.0 1.20032E-06
16615 65 L/F 97 rs1212016273 0.1527 None gnomAD-2.1.1 4.04E-06
16615 65 L/F 97 rs1212016273 0.1527 None gnomAD-4.0.0 6.37515E-06
16616 66 M/I 98 rs2056601622 0.7096 None gnomAD-3.1.2 6.58E-06
16616 66 M/I 98 rs2056601622 0.7096 None gnomAD-4.0.0 6.5825E-06
16616 66 M/L 98 rs1284104551 0.7096 None gnomAD-2.1.1 4.04E-06
16616 66 M/L 98 rs1284104551 0.7096 None gnomAD-4.0.0 1.59378E-06
16616 66 M/T 98 rs1428945132 0.7096 None gnomAD-2.1.1 3.19E-05
16616 66 M/T 98 rs1428945132 0.7096 None gnomAD-3.1.2 6.58E-06
16616 66 M/T 98 rs1428945132 0.7096 None gnomAD-4.0.0 2.03049E-06
16617 67 E/K 99 None 0.5595 None gnomAD-4.0.0 1.20032E-06
16618 68 G/E 100 rs767129130 0.3941 None gnomAD-2.1.1 4.04E-06
16618 68 G/E 100 rs767129130 0.3941 None gnomAD-4.0.0 1.36935E-06
16618 68 G/R 100 rs1418313981 0.3941 None gnomAD-3.1.2 6.58E-06
16618 68 G/R 100 rs1418313981 0.3941 None gnomAD-4.0.0 3.8494E-06
16619 69 Q/H 102 rs754592165 0.1898 None gnomAD-4.0.0 4.78153E-06
16620 70 E/D 103 None 0.2327 None gnomAD-4.0.0 1.59388E-06
16620 70 E/K 103 None 0.2327 None gnomAD-4.0.0 4.10813E-06
16620 70 E/V 103 None 0.2327 None gnomAD-4.0.0 2.40064E-06
16621 71 Y/H 104 rs766377448 0.1145 None gnomAD-2.1.1 8.08E-06
16621 71 Y/H 104 rs766377448 0.1145 None gnomAD-4.0.0 3.18769E-06
16622 72 S/P 105 rs1178148859 0.1284 None gnomAD-2.1.1 3.19E-05
16622 72 S/P 105 rs1178148859 0.1284 None gnomAD-3.1.2 6.58E-06
16622 72 S/P 105 rs1178148859 0.1284 None gnomAD-4.0.0 6.58233E-06
16623 73 F/L 106 None 0.1219 None gnomAD-4.0.0 1.20032E-06
16623 73 F/S 106 rs1244057905 0.1219 None gnomAD-2.1.1 8.08E-06
16623 73 F/S 106 rs1244057905 0.1219 None gnomAD-3.1.2 6.59E-06
16623 73 F/S 106 rs1244057905 0.1219 None gnomAD-4.0.0 9.92334E-06
16624 74 R/Q 107 rs367566671 0.1333 None gnomAD-2.1.1 1.64992E-04
16624 74 R/Q 107 rs367566671 0.1333 None gnomAD-3.1.2 1.44815E-04
16624 74 R/Q 107 rs367566671 0.1333 None 1000 genomes 5.99042E-04
16624 74 R/Q 107 rs367566671 0.1333 None gnomAD-4.0.0 7.62793E-05
16625 75 V/G 108 None 0.0818 None gnomAD-4.0.0 1.20032E-06
16626 76 R/T 109 rs773007980 0.1848 None gnomAD-2.1.1 7.17E-06
16626 76 R/T 109 rs773007980 0.1848 None gnomAD-3.1.2 6.58E-06
16626 76 R/T 109 rs773007980 0.1848 None gnomAD-4.0.0 3.84946E-06
16627 77 A/G 110 rs1037960850 0.0837 None gnomAD-4.0.0 2.0541E-06
16628 78 V/A 111 rs764958038 0.2179 None gnomAD-2.1.1 4.04E-06
16628 78 V/M 111 None 0.2179 None gnomAD-4.0.0 1.36943E-06
16629 79 N/D 112 None 0.1159 None gnomAD-4.0.0 1.20032E-06
16629 79 N/I 112 rs761960063 0.1159 None gnomAD-4.0.0 1.59398E-06
16629 79 N/T 112 None 0.1159 None gnomAD-4.0.0 3.18795E-06
16630 80 K/E 113 rs374031591 0.9730 None gnomAD-2.1.1 4.04E-06
16630 80 K/E 113 rs374031591 0.9730 None gnomAD-4.0.0 1.20032E-06
16631 81 A/G 114 None 0.4719 None gnomAD-4.0.0 1.20032E-06
16631 81 A/S 114 None 0.4719 None gnomAD-4.0.0 3.18807E-06
16632 82 G/E 115 rs1385134707 0.2227 None gnomAD-2.1.1 4.05E-06
16632 82 G/E 115 rs1385134707 0.2227 None gnomAD-4.0.0 1.59415E-06
16633 83 E/K 117 None 0.5047 None gnomAD-4.0.0 2.40065E-06
16634 84 S/G 118 rs2056591982 0.0912 None gnomAD-4.0.0 1.59424E-06
16634 84 S/N 118 None 0.0912 None gnomAD-4.0.0 1.59424E-06
16635 85 E/D 119 None 0.5843 None gnomAD-4.0.0 1.59427E-06
16636 86 P/H 120 rs775947694 0.2532 None gnomAD-2.1.1 4.05E-06
16636 86 P/H 120 rs775947694 0.2532 None gnomAD-4.0.0 3.42389E-06
16636 86 P/R 120 None 0.2532 None gnomAD-4.0.0 6.84779E-07
16637 87 S/C 121 None 0.1044 None gnomAD-4.0.0 1.59437E-06
16637 87 S/N 121 rs181141442 0.1044 None gnomAD-3.1.2 6.58E-06
16637 87 S/N 121 rs181141442 0.1044 None gnomAD-4.0.0 1.2405E-06
16638 88 E/D 122 rs2056589440 0.7311 None gnomAD-4.0.0 1.36967E-06
16639 89 P/T 123 None 0.3484 None gnomAD-4.0.0 1.20037E-06
16640 90 S/N 124 rs55663050 0.1121 None gnomAD-4.0.0 6.84922E-07
16640 90 S/T 124 rs55663050 0.1121 None gnomAD-2.1.1 3.43582E-03
16640 90 S/T 124 rs55663050 0.1121 None gnomAD-3.1.2 1.79752E-03
16640 90 S/T 124 rs55663050 0.1121 None 1000 genomes 5.99042E-03
16640 90 S/T 124 rs55663050 0.1121 None gnomAD-4.0.0 2.19912E-03
16641 91 D/G 125 None 0.6805 None gnomAD-4.0.0 1.2004E-06
16642 92 P/L 126 rs2056587744 0.4388 None gnomAD-4.0.0 1.59546E-06
16646 96 R/Q 131 rs746384579 0.6882 None gnomAD-2.1.1 7.28E-05
16646 96 R/Q 131 rs746384579 0.6882 None gnomAD-3.1.2 5.93E-05
16646 96 R/Q 131 rs746384579 0.6882 None gnomAD-4.0.0 3.85265E-05
16646 96 R/W 131 rs794729448 0.6882 None gnomAD-2.1.1 3.19E-05
16646 96 R/W 131 rs794729448 0.6882 None gnomAD-3.1.2 1.32E-05
16646 96 R/W 131 rs794729448 0.6882 None gnomAD-4.0.0 4.97106E-06