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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
24431 1 D/N 1 rs757317072 0.9907 None gnomAD-2.1.1 3.63E-05
24431 1 D/N 1 rs757317072 0.9907 None gnomAD-4.0.0 9.55219E-06
24431 1 D/V 1 rs754343858 0.9907 None gnomAD-2.1.1 1.07E-05
24431 1 D/V 1 rs754343858 0.9907 None gnomAD-3.1.2 3.95E-05
24431 1 D/V 1 rs754343858 0.9907 None gnomAD-4.0.0 1.15356E-05
24432 2 A/T 2 None 0.5103 None gnomAD-4.0.0 1.59206E-06
24434 4 L/P 4 rs778199323 0.3163 None gnomAD-2.1.1 4.03E-06
24434 4 L/P 4 rs778199323 0.3163 None gnomAD-4.0.0 1.59207E-06
24435 5 R/C 8 rs200028088 0.7486 None gnomAD-2.1.1 1.10956E-04
24435 5 R/C 8 rs200028088 0.7486 None gnomAD-3.1.2 1.38154E-04
24435 5 R/C 8 rs200028088 0.7486 None gnomAD-4.0.0 1.15289E-04
24435 5 R/H 8 rs794727456 0.7486 None gnomAD-2.1.1 2.15E-05
24435 5 R/H 8 rs794727456 0.7486 None gnomAD-3.1.2 2.63E-05
24435 5 R/H 8 rs794727456 0.7486 None gnomAD-4.0.0 1.23981E-05
24435 5 R/L 8 rs794727456 0.7486 None gnomAD-4.0.0 6.8439E-07
24435 5 R/S 8 rs200028088 0.7486 None gnomAD-2.1.1 4.03E-06
24435 5 R/S 8 rs200028088 0.7486 None gnomAD-4.0.0 2.05309E-06
24436 6 K/E 9 None 0.6642 None gnomAD-4.0.0 1.20032E-06
24436 6 K/N 9 rs1708726182 0.6642 None gnomAD-4.0.0 1.3687E-06
24436 6 K/Q 9 rs1301799099 0.6642 None gnomAD-3.1.2 6.58E-06
24436 6 K/Q 9 rs1301799099 0.6642 None gnomAD-4.0.0 6.57583E-06
24436 6 K/R 9 None 0.6642 None gnomAD-4.0.0 1.20032E-06
24437 7 V/A 11 None 0.4771 None gnomAD-4.0.0 6.84341E-07
24437 7 V/D 11 None 0.4771 None gnomAD-4.0.0 1.36868E-06
24439 9 T/I 14 rs750110781 0.3724 None gnomAD-2.1.1 8.06E-06
24439 9 T/I 14 rs750110781 0.3724 None gnomAD-3.1.2 6.58E-06
24439 9 T/I 14 rs750110781 0.3724 None gnomAD-4.0.0 5.12694E-06
24440 10 I/L 16 rs373311221 0.1615 None gnomAD-2.1.1 8.06E-06
24440 10 I/L 16 rs373311221 0.1615 None gnomAD-4.0.0 4.79049E-06
24440 10 I/T 16 rs370931683 0.1615 None gnomAD-2.1.1 3.94E-05
24440 10 I/T 16 rs370931683 0.1615 None gnomAD-3.1.2 7.89E-05
24440 10 I/T 16 rs370931683 0.1615 None 1000 genomes 3.99361E-04
24440 10 I/T 16 rs370931683 0.1615 None gnomAD-4.0.0 1.36355E-05
24440 10 I/V 16 rs373311221 0.1615 None gnomAD-2.1.1 8.06E-06
24440 10 I/V 16 rs373311221 0.1615 None gnomAD-4.0.0 4.10614E-06
24441 11 R/K 18 rs1559418326 0.6269 None gnomAD-2.1.1 4.03E-06
24441 11 R/K 18 rs1559418326 0.6269 None gnomAD-4.0.0 3.42177E-06
24442 12 A/D 23 rs878960037 0.1896 None gnomAD-2.1.1 4.03E-06
24442 12 A/D 23 rs878960037 0.1896 None gnomAD-3.1.2 6.58E-06
24442 12 A/D 23 rs878960037 0.1896 None gnomAD-4.0.0 6.57635E-06
24442 12 A/G 23 None 0.1896 None gnomAD-4.0.0 2.73743E-06
24442 12 A/T 23 rs764005465 0.1896 None gnomAD-2.1.1 8.06E-06
24442 12 A/T 23 rs764005465 0.1896 None gnomAD-4.0.0 1.59206E-06
24442 12 A/V 23 None 0.1896 None gnomAD-4.0.0 3.42179E-06
24444 14 C/R 25 None 0.2706 None gnomAD-4.0.0 1.59193E-06
24444 14 C/S 25 rs760672834 0.2706 None gnomAD-2.1.1 4.03E-06
24445 15 T/A 26 None 0.3416 None gnomAD-4.0.0 1.20032E-06
24445 15 T/I 26 rs377334665 0.3416 None gnomAD-2.1.1 1.00167E-04
24445 15 T/I 26 rs377334665 0.3416 None gnomAD-3.1.2 1.11822E-04
24445 15 T/I 26 rs377334665 0.3416 None gnomAD-4.0.0 2.11985E-04
24445 15 T/N 26 rs377334665 0.3416 None gnomAD-2.1.1 1.61E-05
24445 15 T/N 26 rs377334665 0.3416 None gnomAD-4.0.0 2.05297E-06
24447 17 R/K 29 rs377190830 0.4901 None gnomAD-2.1.1 4.03E-06
24447 17 R/K 29 rs377190830 0.4901 None gnomAD-3.1.2 1.97E-05
24447 17 R/K 29 rs377190830 0.4901 None gnomAD-4.0.0 5.57846E-06
24448 18 L/H 30 None 0.1524 None gnomAD-4.0.0 3.42162E-06
24448 18 L/V 30 rs1400578707 0.1524 None gnomAD-2.1.1 3.19E-05
24448 18 L/V 30 rs1400578707 0.1524 None gnomAD-3.1.2 6.58E-06
24448 18 L/V 30 rs1400578707 0.1524 None gnomAD-4.0.0 3.84493E-06
24450 20 V/A 33 None 0.2493 None gnomAD-4.0.0 6.84326E-07
24450 20 V/F 33 rs771025206 0.2493 None gnomAD-2.1.1 4.03E-06
24450 20 V/F 33 rs771025206 0.2493 None gnomAD-4.0.0 2.7374E-06
24451 21 P/R 34 None 0.4633 None gnomAD-4.0.0 1.59192E-06
24452 22 I/V 35 rs1708703348 0.1669 None gnomAD-4.0.0 1.20032E-06
24455 25 R/G 41 rs777909869 0.6698 None gnomAD-2.1.1 4.03E-06
24455 25 R/G 41 rs777909869 0.6698 None gnomAD-4.0.0 1.59185E-06
24455 25 R/K 41 None 0.6698 None gnomAD-4.0.0 1.20032E-06
24456 26 P/H 42 None 0.5093 None gnomAD-4.0.0 1.59187E-06
24456 26 P/R 42 None 0.5093 None gnomAD-4.0.0 1.59187E-06
24457 27 A/E 43 None 0.4739 None gnomAD-4.0.0 1.59188E-06
24458 28 P/L 44 rs1315030705 0.2280 None gnomAD-2.1.1 4.03E-06
24458 28 P/L 44 rs1315030705 0.2280 None gnomAD-4.0.0 2.05295E-06
24458 28 P/S 44 rs1353783438 0.2280 None gnomAD-2.1.1 4.03E-06
24458 28 P/S 44 rs1353783438 0.2280 None gnomAD-4.0.0 1.59182E-06
24459 29 E/G 45 None 0.8364 None gnomAD-4.0.0 1.20032E-06
24459 29 E/K 45 rs1446425983 0.8364 None gnomAD-3.1.2 6.58E-06
24459 29 E/K 45 rs1446425983 0.8364 None gnomAD-4.0.0 4.33869E-06
24460 30 V/A 46 None 0.3134 None gnomAD-4.0.0 6.36738E-06
24460 30 V/L 46 None 0.3134 None gnomAD-4.0.0 1.36862E-06
24460 30 V/M 46 rs546803158 0.3134 None gnomAD-2.1.1 6.85E-05
24460 30 V/M 46 rs546803158 0.3134 None gnomAD-3.1.2 3.95E-05
24460 30 V/M 46 rs546803158 0.3134 None 1000 genomes 5.99042E-04
24460 30 V/M 46 rs546803158 0.3134 None gnomAD-4.0.0 2.97488E-05
24461 31 K/E 47 rs916071227 0.7246 None gnomAD-2.1.1 8.05E-06
24461 31 K/E 47 rs916071227 0.7246 None gnomAD-4.0.0 1.02648E-05
24461 31 K/R 47 None 0.7246 None gnomAD-4.0.0 1.59185E-06
24463 33 A/D 49 None 0.2974 None gnomAD-4.0.0 2.05294E-06
24463 33 A/V 49 None 0.2974 None gnomAD-4.0.0 6.84313E-07
24464 34 R/Q 50 rs750056949 0.1418 None gnomAD-2.1.1 2.42E-05
24464 34 R/Q 50 rs750056949 0.1418 None gnomAD-3.1.2 4.6E-05
24464 34 R/Q 50 rs750056949 0.1418 None gnomAD-4.0.0 2.04546E-05
24464 34 R/W 50 rs369098292 0.1418 None gnomAD-2.1.1 4.03E-06
24464 34 R/W 50 rs369098292 0.1418 None gnomAD-3.1.2 1.32E-05
24464 34 R/W 50 rs369098292 0.1418 None gnomAD-4.0.0 1.0254E-05
24465 35 D/N 51 rs764857452 0.4592 None gnomAD-2.1.1 1.21E-05
24465 35 D/N 51 rs764857452 0.4592 None gnomAD-4.0.0 1.1143E-05
24466 36 H/N 52 rs756789484 0.8089 None gnomAD-2.1.1 4.03E-06
24466 36 H/Q 52 rs375373437 0.8089 None gnomAD-2.1.1 4.03E-06
24466 36 H/R 52 None 0.8089 None gnomAD-4.0.0 4.80129E-06
24470 40 L/S 69 rs1161493702 0.2728 None gnomAD-2.1.1 4.03E-06
24470 40 L/S 69 rs1161493702 0.2728 None gnomAD-4.0.0 1.59188E-06
24471 41 D/G 70 rs1471781546 0.8412 None gnomAD-2.1.1 4.03E-06
24471 41 D/G 70 rs1471781546 0.8412 None gnomAD-4.0.0 3.18374E-06
24471 41 D/H 70 rs1708675722 0.8412 None gnomAD-4.0.0 1.20032E-06
24472 42 K/N 73 rs1239070012 0.5755 None gnomAD-2.1.1 4.03E-06
24472 42 K/N 73 rs1239070012 0.5755 None gnomAD-3.1.2 6.58E-06
24472 42 K/N 73 rs1239070012 0.5755 None gnomAD-4.0.0 3.84493E-06
24473 43 A/D 102 rs763682152 0.2087 None gnomAD-2.1.1 4.03E-06
24473 43 A/D 102 rs763682152 0.2087 None gnomAD-3.1.2 6.58E-06
24473 43 A/D 102 rs763682152 0.2087 None gnomAD-4.0.0 2.56336E-06
24473 43 A/S 102 None 0.2087 None gnomAD-4.0.0 1.20032E-06
24474 44 S/N 122 None 0.4758 None gnomAD-4.0.0 1.20032E-06
24476 46 E/K 125 rs760487688 0.5747 None gnomAD-2.1.1 1.61E-05
24476 46 E/K 125 rs760487688 0.5747 None gnomAD-4.0.0 1.09494E-05
24477 47 S/F 127 None 0.4274 None gnomAD-4.0.0 1.20032E-06
24478 48 T/I 130 None 0.2890 None gnomAD-4.0.0 3.60097E-06
24479 49 S/G 131 rs1303034746 0.6799 None gnomAD-3.1.2 6.58E-06
24479 49 S/G 131 rs1303034746 0.6799 None gnomAD-4.0.0 2.56331E-06
24480 50 S/C 134 rs775608256 0.3640 None gnomAD-2.1.1 2.01E-05
24480 50 S/C 134 rs775608256 0.3640 None gnomAD-4.0.0 3.42166E-06
24482 52 T/A 136 rs1488357017 0.1020 None gnomAD-2.1.1 4.03E-06
24482 52 T/A 136 rs1488357017 0.1020 None gnomAD-4.0.0 1.59204E-06
24482 52 T/I 136 rs1708660987 0.1020 None gnomAD-3.1.2 6.58E-06
24482 52 T/I 136 rs1708660987 0.1020 None gnomAD-4.0.0 6.57652E-06
24483 53 L/P 137 None 0.2154 None gnomAD-4.0.0 1.59264E-06
24483 53 L/R 137 rs1226073003 0.2154 None gnomAD-2.1.1 4.03E-06
24483 53 L/R 137 rs1226073003 0.2154 None gnomAD-4.0.0 1.59264E-06
24484 54 L/P 138 None 0.0882 None gnomAD-4.0.0 1.59241E-06
24485 55 I/T 139 rs1708656182 0.2438 None gnomAD-3.1.2 6.57E-06
24485 55 I/T 139 rs1708656182 0.2438 None gnomAD-4.0.0 6.57402E-06
24488 58 N/K 143 rs1223093442 0.7664 None gnomAD-3.1.2 6.58E-06
24488 58 N/K 143 rs1223093442 0.7664 None gnomAD-4.0.0 6.57566E-06
24491 61 R/I 146 None 0.1125 None gnomAD-4.0.0 2.0536E-06
24491 61 R/T 146 None 0.1125 None gnomAD-4.0.0 6.84533E-07
24494 64 S/G 151 None 0.2130 None gnomAD-4.0.0 3.18607E-06
24494 64 S/T 151 rs767397034 0.2130 None gnomAD-2.1.1 4.03E-06
24494 64 S/T 151 rs767397034 0.2130 None gnomAD-4.0.0 2.73831E-06
24495 65 G/S 152 rs1281920947 0.2542 None gnomAD-4.0.0 1.36906E-06
24496 66 K/T 153 rs1035751709 0.1983 None gnomAD-3.1.2 6.58E-06
24496 66 K/T 153 rs1035751709 0.1983 None gnomAD-4.0.0 6.57609E-06
24498 68 I/T 155 rs999356680 0.2086 None gnomAD-2.1.1 8.06E-06
24498 68 I/T 155 rs999356680 0.2086 None gnomAD-3.1.2 6.58E-06
24498 68 I/T 155 rs999356680 0.2086 None gnomAD-4.0.0 3.71943E-06
24498 68 I/V 155 None 0.2086 None gnomAD-4.0.0 1.59265E-06
24499 69 L/P 156 rs769255289 0.1306 None gnomAD-4.0.0 1.20032E-06
24501 71 V/A 158 rs1400873497 0.2253 None gnomAD-2.1.1 4.03E-06
24501 71 V/A 158 rs1400873497 0.2253 None gnomAD-4.0.0 1.59243E-06
24501 71 V/I 158 rs774708126 0.2253 None gnomAD-2.1.1 1.61E-05
24501 71 V/I 158 rs774708126 0.2253 None gnomAD-3.1.2 6.58E-06
24501 71 V/I 158 rs774708126 0.2253 None gnomAD-4.0.0 7.43863E-06
24502 72 E/D 159 None 0.5055 None gnomAD-4.0.0 1.36882E-06
24503 73 N/H 161 rs770989516 0.1787 None gnomAD-2.1.1 4.03E-06
24503 73 N/H 161 rs770989516 0.1787 None gnomAD-4.0.0 1.59234E-06
24504 74 S/N 162 None 0.6942 None gnomAD-4.0.0 1.59252E-06
24506 76 G/D 164 rs567446185 0.3603 None gnomAD-2.1.1 1.39602E-04
24506 76 G/D 164 rs567446185 0.3603 None gnomAD-3.1.2 4.6E-05
24506 76 G/D 164 rs567446185 0.3603 None 1000 genomes 1.99681E-04
24506 76 G/D 164 rs567446185 0.3603 None gnomAD-4.0.0 3.40928E-05
24508 78 K/R 166 rs1559416294 0.8349 None gnomAD-4.0.0 1.59229E-06
24509 79 S/P 168 None 0.4921 None gnomAD-4.0.0 6.84405E-07
24509 79 S/T 168 rs745424387 0.4921 None gnomAD-2.1.1 8.06E-06
24509 79 S/T 168 rs745424387 0.4921 None gnomAD-4.0.0 4.10643E-06
24509 79 S/Y 168 None 0.4921 None gnomAD-4.0.0 1.59225E-06
24511 81 F/Y 171 rs1421171705 0.5228 None gnomAD-2.1.1 4.03E-06
24511 81 F/Y 171 rs1421171705 0.5228 None gnomAD-4.0.0 1.59222E-06
24512 82 V/I 172 None 0.1814 None gnomAD-4.0.0 6.84378E-07
24512 82 V/L 172 None 0.1814 None gnomAD-4.0.0 6.84378E-07
24513 83 N/S 173 rs1195528043 0.3939 None gnomAD-2.1.1 1.21E-05
24513 83 N/S 173 rs1195528043 0.3939 None gnomAD-4.0.0 4.10614E-06
24515 85 R/T 175 rs1470812776 0.4184 None gnomAD-3.1.2 6.58E-06
24515 85 R/T 175 rs1470812776 0.4184 None gnomAD-4.0.0 1.85954E-06
24516 86 V/I 177 rs72646897 0.0934 None gnomAD-2.1.1 1.07E-05
24516 86 V/I 177 rs72646897 0.0934 None gnomAD-3.1.2 3.29E-05
24516 86 V/I 177 rs72646897 0.0934 None gnomAD-4.0.0 4.95865E-06