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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
29445 2 E/D 2 rs1391026926 0.5591 None gnomAD-2.1.1 3.19E-05
29445 2 E/D 2 rs1391026926 0.5591 None gnomAD-3.1.2 6.57E-06
29445 2 E/D 2 rs1391026926 0.5591 None gnomAD-4.0.0 6.57376E-06
29445 2 E/Q 2 None 0.5591 None gnomAD-4.0.0 1.59788E-06
29447 4 T/I 4 rs140201636 0.5890 None gnomAD-2.1.1 4.05E-06
29447 4 T/I 4 rs140201636 0.5890 None gnomAD-4.0.0 6.84447E-07
29447 4 T/K 4 None 0.5890 None gnomAD-4.0.0 6.84447E-07
29447 4 T/R 4 rs140201636 0.5890 None gnomAD-2.1.1 2.29865E-04
29447 4 T/R 4 rs140201636 0.5890 None gnomAD-3.1.2 7.82709E-04
29447 4 T/R 4 rs140201636 0.5890 None 1000 genomes 5.99042E-04
29447 4 T/R 4 rs140201636 0.5890 None gnomAD-4.0.0 1.37616E-04
29448 5 E/Q 9 None 0.8182 None gnomAD-4.0.0 1.59247E-06
29449 6 V/F 11 None 0.3418 None gnomAD-4.0.0 1.20033E-06
29452 9 Y/H 16 rs763288364 0.2622 None gnomAD-2.1.1 1.61E-05
29452 9 Y/H 16 rs763288364 0.2622 None gnomAD-4.0.0 1.4322E-05
29453 10 R/G 18 rs773524612 0.7417 None gnomAD-2.1.1 8.07E-06
29453 10 R/G 18 rs773524612 0.7417 None gnomAD-3.1.2 1.97E-05
29453 10 R/G 18 rs773524612 0.7417 None gnomAD-4.0.0 7.68665E-06
29453 10 R/K 18 None 0.7417 None gnomAD-4.0.0 1.36844E-06
29453 10 R/S 18 None 0.7417 None gnomAD-4.0.0 1.20032E-06
29455 12 G/D 24 rs769764408 0.3379 None gnomAD-2.1.1 4.03E-06
29455 12 G/D 24 rs769764408 0.3379 None gnomAD-4.0.0 1.59123E-06
29456 13 T/I 25 rs1468721085 0.3287 None gnomAD-3.1.2 6.57E-06
29456 13 T/I 25 rs1468721085 0.3287 None gnomAD-4.0.0 1.85916E-06
29456 13 T/R 25 rs1468721085 0.3287 None gnomAD-4.0.0 1.36844E-06
29457 14 S/T 26 rs1436729159 0.4339 None gnomAD-3.1.2 6.57E-06
29457 14 S/T 26 rs1436729159 0.4339 None gnomAD-4.0.0 6.5722E-06
29458 15 V/L 28 rs1575553466 0.1141 None gnomAD-4.0.0 3.60099E-06
29460 17 L/I 30 None 0.1061 None gnomAD-4.0.0 1.59119E-06
29460 17 L/P 30 rs1273946474 0.1061 None gnomAD-3.1.2 6.57E-06
29460 17 L/P 30 rs1273946474 0.1061 None gnomAD-4.0.0 6.57134E-06
29461 18 R/T 31 None 0.4674 None gnomAD-4.0.0 2.40067E-06
29462 19 A/G 33 None 0.2347 None gnomAD-4.0.0 1.59121E-06
29462 19 A/T 33 None 0.2347 None gnomAD-4.0.0 1.5912E-06
29464 21 I/L 35 rs1700847616 0.1453 None gnomAD-3.1.2 6.57E-06
29464 21 I/L 35 rs1700847616 0.1453 None gnomAD-4.0.0 6.57091E-06
29465 22 S/F 38 rs146181116 0.8971 None gnomAD-2.1.1 3.13962E-03
29465 22 S/F 38 rs146181116 0.8971 None gnomAD-3.1.2 3.25363E-03
29465 22 S/F 38 rs146181116 0.8971 None 1000 genomes 1.79712E-03
29465 22 S/F 38 rs146181116 0.8971 None gnomAD-4.0.0 3.75516E-03
29468 25 P/L 42 rs747441311 0.4787 None gnomAD-2.1.1 2.01E-05
29468 25 P/L 42 rs747441311 0.4787 None gnomAD-3.1.2 1.31E-05
29468 25 P/L 42 rs747441311 0.4787 None gnomAD-4.0.0 9.91551E-06
29468 25 P/R 42 rs747441311 0.4787 None gnomAD-2.1.1 4.03E-06
29468 25 P/R 42 rs747441311 0.4787 None gnomAD-3.1.2 1.31E-05
29468 25 P/R 42 rs747441311 0.4787 None gnomAD-4.0.0 2.47888E-06
29468 25 P/S 42 rs769270365 0.4787 None gnomAD-2.1.1 4.03E-06
29468 25 P/S 42 rs769270365 0.4787 None gnomAD-4.0.0 1.20032E-06
29469 26 A/P 43 None 0.5449 None gnomAD-4.0.0 1.59132E-06
29469 26 A/T 43 rs1482444171 0.5449 None gnomAD-2.1.1 1.21E-05
29469 26 A/T 43 rs1482444171 0.5449 None gnomAD-3.1.2 3.29E-05
29469 26 A/T 43 rs1482444171 0.5449 None gnomAD-4.0.0 1.02491E-05
29469 26 A/V 43 rs397517740 0.5449 None gnomAD-2.1.1 8.94E-05
29469 26 A/V 43 rs397517740 0.5449 None gnomAD-3.1.2 1.97E-05
29469 26 A/V 43 rs397517740 0.5449 None gnomAD-4.0.0 5.32967E-05
29472 29 I/T 46 rs1700836863 0.2470 None gnomAD-4.0.0 1.59134E-06
29473 30 E/D 47 rs1575552905 0.4956 None gnomAD-3.1.2 6.57E-06
29473 30 E/D 47 rs1575552905 0.4956 None gnomAD-4.0.0 2.56232E-06
29475 32 Y/F 49 None 0.2320 None gnomAD-4.0.0 1.36847E-06
29475 32 Y/H 49 rs1226553823 0.2320 None gnomAD-2.1.1 4.03E-06
29475 32 Y/H 49 rs1226553823 0.2320 None gnomAD-4.0.0 9.57933E-06
29475 32 Y/S 49 None 0.2320 None gnomAD-4.0.0 6.84235E-07
29476 33 K/R 50 None 0.1504 None gnomAD-4.0.0 1.20032E-06
29477 34 D/E 51 None 0.4051 None gnomAD-4.0.0 3.18292E-06
29477 34 D/G 51 None 0.4051 None gnomAD-4.0.0 6.84242E-07
29477 34 D/H 51 None 0.4051 None gnomAD-4.0.0 1.36849E-06
29477 34 D/V 51 rs777351270 0.4051 None gnomAD-2.1.1 4.03E-06
29477 34 D/V 51 rs777351270 0.4051 None gnomAD-4.0.0 6.84242E-07
29478 35 D/G 52 None 0.9446 None gnomAD-4.0.0 3.18293E-06
29478 35 D/N 52 rs1288820688 0.9446 None gnomAD-2.1.1 4.03E-06
29478 35 D/N 52 rs1288820688 0.9446 None gnomAD-3.1.2 6.57E-06
29478 35 D/N 52 rs1288820688 0.9446 None gnomAD-4.0.0 6.57402E-06
29478 35 D/Y 52 rs1288820688 0.9446 None gnomAD-2.1.1 3.19E-05
29478 35 D/Y 52 rs1288820688 0.9446 None gnomAD-3.1.2 6.57E-06
29478 35 D/Y 52 rs1288820688 0.9446 None gnomAD-4.0.0 6.57402E-06
29479 36 K/Q 55 rs1700830779 0.7582 None gnomAD-3.1.2 6.57E-06
29479 36 K/Q 55 rs1700830779 0.7582 None gnomAD-4.0.0 6.57091E-06
29482 39 Q/K 69 rs1489773324 0.9102 None gnomAD-3.1.2 6.57E-06
29482 39 Q/K 69 rs1489773324 0.9102 None gnomAD-4.0.0 6.57237E-06
29484 41 N/K 73 None 0.4131 None gnomAD-4.0.0 1.59155E-06
29484 41 N/S 73 None 0.4131 None gnomAD-4.0.0 2.05278E-06
29485 42 A/V 102 None 0.6530 None gnomAD-4.0.0 1.20033E-06
29486 43 L/M 115 None 0.6063 None gnomAD-4.0.0 1.59158E-06
29486 43 L/P 115 rs1376620284 0.6063 None gnomAD-2.1.1 4.03E-06
29486 43 L/P 115 rs1376620284 0.6063 None gnomAD-4.0.0 1.59156E-06
29487 44 V/A 121 rs2154153415 0.1876 None gnomAD-4.0.0 2.73706E-06
29487 44 V/L 121 rs200899806 0.1876 None gnomAD-2.1.1 4.03E-06
29487 44 V/L 121 rs200899806 0.1876 None gnomAD-3.1.2 6.57E-06
29487 44 V/L 121 rs200899806 0.1876 None gnomAD-4.0.0 6.84272E-07
29487 44 V/M 121 None 0.1876 None gnomAD-2.1.1 6.93754E-04
29487 44 V/M 121 None 0.1876 None gnomAD-3.1.2 9.00522E-04
29487 44 V/M 121 None 0.1876 None gnomAD-4.0.0 6.04261E-04
29488 45 C/S 122 None 0.2786 None gnomAD-4.0.0 1.20032E-06
29489 46 V/A 123 None 0.3101 None gnomAD-4.0.0 1.59158E-06
29489 46 V/D 123 None 0.3101 None gnomAD-4.0.0 1.59158E-06
29490 47 E/G 125 rs1387328093 0.6044 None gnomAD-2.1.1 8.05E-06
29490 47 E/G 125 rs1387328093 0.6044 None gnomAD-4.0.0 4.77458E-06
29490 47 E/K 125 rs1466195239 0.6044 None gnomAD-2.1.1 4.03E-06
29490 47 E/K 125 rs1466195239 0.6044 None gnomAD-4.0.0 4.77493E-06
29491 48 N/K 127 None 0.3775 None gnomAD-4.0.0 6.84259E-07
29492 49 T/A 130 None 0.4246 None gnomAD-4.0.0 1.59154E-06
29492 49 T/S 130 rs1700819240 0.4246 None gnomAD-3.1.2 6.57E-06
29492 49 T/S 130 rs1700819240 0.4246 None gnomAD-4.0.0 6.57341E-06
29493 50 T/M 131 rs955762474 0.8296 None gnomAD-2.1.1 8.06E-06
29493 50 T/M 131 rs955762474 0.8296 None gnomAD-4.0.0 2.12127E-05
29494 51 D/E 134 None 0.5463 None gnomAD-4.0.0 6.84269E-07
29496 53 A/S 136 None 0.0782 None gnomAD-4.0.0 6.84267E-07
29496 53 A/T 136 rs751491298 0.0782 None gnomAD-2.1.1 3.22E-05
29496 53 A/T 136 rs751491298 0.0782 None gnomAD-3.1.2 3.29E-05
29496 53 A/T 136 rs751491298 0.0782 None gnomAD-4.0.0 1.23946E-05
29496 53 A/V 136 None 0.0782 None gnomAD-4.0.0 3.60101E-06
29498 55 I/T 138 rs762766139 0.0781 None gnomAD-2.1.1 8.05E-06
29498 55 I/T 138 rs762766139 0.0781 None gnomAD-4.0.0 2.73696E-06
29498 55 I/V 138 rs1559235133 0.0781 None gnomAD-2.1.1 4.03E-06
29498 55 I/V 138 rs1559235133 0.0781 None gnomAD-4.0.0 3.18286E-06
29499 56 L/F 139 rs968816753 0.2618 None gnomAD-4.0.0 1.59147E-06
29499 56 L/R 139 rs72648234 0.2618 None gnomAD-2.1.1 1.42956E-04
29499 56 L/R 139 rs72648234 0.2618 None gnomAD-3.1.2 9.2E-05
29499 56 L/R 139 rs72648234 0.2618 None gnomAD-4.0.0 1.56789E-04
29500 57 I/L 140 rs761934380 0.1105 None gnomAD-2.1.1 1.61E-05
29500 57 I/L 140 rs761934380 0.1105 None gnomAD-4.0.0 7.52669E-06
29500 57 I/M 140 None 0.1105 None gnomAD-4.0.0 6.84265E-07
29503 60 A/S 144 rs1403452380 0.1034 None gnomAD-3.1.2 6.57E-06
29503 60 A/S 144 rs1403452380 0.1034 None gnomAD-4.0.0 6.57151E-06
29503 60 A/T 144 rs1403452380 0.1034 None gnomAD-3.1.2 6.57E-06
29503 60 A/T 144 rs1403452380 0.1034 None gnomAD-4.0.0 5.07471E-06
29503 60 A/V 144 rs1224421468 0.1034 None gnomAD-2.1.1 3.19E-05
29503 60 A/V 144 rs1224421468 0.1034 None gnomAD-3.1.2 6.57E-06
29503 60 A/V 144 rs1224421468 0.1034 None gnomAD-4.0.0 6.57263E-06
29504 61 D/E 145 None 0.3227 None gnomAD-4.0.0 8.40227E-06
29504 61 D/N 145 rs376679796 0.3227 None gnomAD-2.1.1 6.78989E-04
29504 61 D/N 145 rs376679796 0.3227 None gnomAD-3.1.2 2.23464E-04
29504 61 D/N 145 rs376679796 0.3227 None 1000 genomes 9.98403E-04
29504 61 D/N 145 rs376679796 0.3227 None gnomAD-4.0.0 3.51971E-04
29504 61 D/Y 145 None 0.3227 None gnomAD-4.0.0 3.42114E-06
29505 62 R/C 146 rs372360369 0.4892 None gnomAD-2.1.1 2.5E-05
29505 62 R/C 146 rs372360369 0.4892 None gnomAD-3.1.2 4.6E-05
29505 62 R/C 146 rs372360369 0.4892 None gnomAD-4.0.0 2.10706E-05
29505 62 R/G 146 None 0.4892 None gnomAD-4.0.0 6.84236E-07
29505 62 R/H 146 rs143193258 0.4892 None gnomAD-2.1.1 8.93E-05
29505 62 R/H 146 rs143193258 0.4892 None gnomAD-3.1.2 2.63E-05
29505 62 R/H 146 rs143193258 0.4892 None 1000 genomes 3.99361E-04
29505 62 R/H 146 rs143193258 0.4892 None gnomAD-4.0.0 4.39959E-05
29505 62 R/S 146 None 0.4892 None gnomAD-4.0.0 6.84236E-07
29506 63 L/F 148 None 0.8706 None gnomAD-4.0.0 1.36844E-06
29508 65 S/N 151 rs1314571330 0.1700 None gnomAD-2.1.1 3.62E-05
29508 65 S/N 151 rs1314571330 0.1700 None gnomAD-3.1.2 3.29E-05
29508 65 S/N 151 rs1314571330 0.1700 None gnomAD-4.0.0 1.73511E-05
29508 65 S/T 151 None 0.1700 None gnomAD-4.0.0 6.84212E-07
29509 66 G/R 152 None 0.1824 None gnomAD-4.0.0 1.59127E-06
29510 67 C/W 153 rs1396298450 0.3609 None gnomAD-2.1.1 4.02E-06
29511 68 Y/C 154 None 0.1311 None gnomAD-4.0.0 7.95672E-06
29511 68 Y/H 154 rs541353288 0.1311 None gnomAD-2.1.1 1.21E-05
29511 68 Y/H 154 rs541353288 0.1311 None gnomAD-3.1.2 6.57E-06
29511 68 Y/H 154 rs541353288 0.1311 None 1000 genomes 1.99681E-04
29511 68 Y/H 154 rs541353288 0.1311 None gnomAD-4.0.0 3.84273E-06
29513 70 L/S 156 rs1318031463 0.1069 None gnomAD-2.1.1 4.02E-06
29513 70 L/S 156 rs1318031463 0.1069 None gnomAD-4.0.0 1.59133E-06
29515 72 L/P 158 None 0.1918 None gnomAD-4.0.0 3.1825E-06
29518 75 A/V 162 None 0.6225 None gnomAD-4.0.0 3.60098E-06
29519 76 M/I 163 rs1559234546 0.7615 None gnomAD-4.0.0 6.84201E-07
29519 76 M/T 163 rs1019759612 0.7615 None gnomAD-3.1.2 1.31E-05
29519 76 M/T 163 rs1019759612 0.7615 None gnomAD-4.0.0 3.09832E-06
29520 77 G/R 164 None 0.3577 None gnomAD-4.0.0 2.40064E-06
29521 78 S/L 165 rs1436663696 0.7259 None gnomAD-2.1.1 4.02E-06
29521 78 S/L 165 rs1436663696 0.7259 None gnomAD-4.0.0 1.59116E-06
29522 79 A/G 166 None 0.4894 None gnomAD-4.0.0 1.20032E-06
29523 80 S/P 168 None 0.5321 None gnomAD-4.0.0 1.59113E-06
29524 81 A/V 169 rs1700784801 0.4356 None gnomAD-4.0.0 1.59115E-06
29526 83 I/V 172 rs887166590 0.1139 None gnomAD-2.1.1 8.05E-06
29526 83 I/V 172 rs887166590 0.1139 None gnomAD-3.1.2 6.57E-06
29526 83 I/V 172 rs887166590 0.1139 None gnomAD-4.0.0 3.71792E-06
29527 84 R/G 173 rs779247881 0.5099 None gnomAD-2.1.1 4.02E-06
29527 84 R/G 173 rs779247881 0.5099 None gnomAD-4.0.0 6.84186E-06
29527 84 R/T 173 rs1450823990 0.5099 None gnomAD-2.1.1 6.37E-05
29527 84 R/T 173 rs1450823990 0.5099 None gnomAD-3.1.2 1.97E-05
29527 84 R/T 173 rs1450823990 0.5099 None gnomAD-4.0.0 5.12392E-06
29528 85 V/I 174 rs747737173 0.1127 None gnomAD-2.1.1 4.02E-06
29528 85 V/I 174 rs747737173 0.1127 None gnomAD-3.1.2 6.57E-06
29528 85 V/I 174 rs747737173 0.1127 None gnomAD-4.0.0 3.47014E-05
29529 86 Q/H 175 None 0.3764 None gnomAD-4.0.0 6.84184E-07
29529 86 Q/R 175 None 0.3764 None gnomAD-4.0.0 1.20032E-06
29530 87 I/M 177 rs780772770 0.0870 None gnomAD-3.1.2 6.57E-06
29530 87 I/M 177 rs780772770 0.0870 None gnomAD-4.0.0 6.57151E-06
29530 87 I/N 177 rs794729524 0.0870 None gnomAD-2.1.1 6.37E-05
29530 87 I/N 177 rs794729524 0.0870 None gnomAD-3.1.2 1.97E-05
29530 87 I/N 177 rs794729524 0.0870 None gnomAD-4.0.0 1.48722E-05