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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
7419 1 P/L 1 None 0.7074 None gnomAD-4.0.0 1.59608E-06
7419 1 P/S 1 rs1486377872 0.7074 None gnomAD-2.1.1 8.09E-06
7419 1 P/S 1 rs1486377872 0.7074 None gnomAD-3.1.2 6.57E-06
7419 1 P/S 1 rs1486377872 0.7074 None gnomAD-4.0.0 6.20417E-06
7421 3 F/S 3 rs1291566645 0.3541 None gnomAD-2.1.1 4.04E-06
7421 3 F/S 3 rs1291566645 0.3541 None gnomAD-4.0.0 1.59516E-06
7422 4 A/P 4 None 0.4019 None gnomAD-4.0.0 1.37003E-06
7422 4 A/S 4 None 0.4019 None gnomAD-4.0.0 6.85015E-07
7422 4 A/T 4 rs2078575332 0.4019 None gnomAD-4.0.0 1.37003E-06
7424 6 Q/E 7 None 0.7968 None gnomAD-4.0.0 1.20032E-06
7424 6 Q/K 7 None 0.7968 None gnomAD-4.0.0 1.20032E-06
7427 9 D/G 11 rs749935348 0.5525 None gnomAD-2.1.1 4.03E-06
7427 9 D/G 11 rs749935348 0.5525 None gnomAD-3.1.2 6.57E-06
7427 9 D/G 11 rs749935348 0.5525 None gnomAD-4.0.0 6.57289E-06
7427 9 D/Y 11 rs1292504636 0.5525 None gnomAD-2.1.1 4.04E-06
7427 9 D/Y 11 rs1292504636 0.5525 None gnomAD-4.0.0 3.18722E-06
7428 10 I/S 13 None 0.3248 None gnomAD-4.0.0 2.40064E-06
7428 10 I/V 13 rs1211184600 0.3248 None gnomAD-2.1.1 3.19E-05
7428 10 I/V 13 rs1211184600 0.3248 None gnomAD-3.1.2 6.57E-06
7428 10 I/V 13 rs1211184600 0.3248 None gnomAD-4.0.0 1.85966E-06
7430 12 Q/P 16 rs1324818657 0.2357 None gnomAD-2.1.1 4.03E-06
7430 12 Q/P 16 rs1324818657 0.2357 None gnomAD-4.0.0 7.96183E-06
7432 14 V/G 23 rs2078569479 0.4507 None gnomAD-3.1.2 6.57E-06
7432 14 V/G 23 rs2078569479 0.4507 None gnomAD-4.0.0 6.57367E-06
7432 14 V/M 23 rs764881933 0.4507 None gnomAD-2.1.1 1.79E-05
7432 14 V/M 23 rs764881933 0.4507 None gnomAD-3.1.2 1.97E-05
7432 14 V/M 23 rs764881933 0.4507 None gnomAD-4.0.0 7.00438E-05
7433 15 G/R 24 rs2078568600 0.3780 None gnomAD-4.0.0 1.59222E-06
7433 15 G/V 24 rs1362341150 0.3780 None gnomAD-2.1.1 4.03E-06
7433 15 G/V 24 rs1362341150 0.3780 None gnomAD-4.0.0 1.36875E-06
7435 17 P/L 26 rs540312596 0.5275 None gnomAD-2.1.1 4.03E-06
7435 17 P/L 26 rs540312596 0.5275 None gnomAD-3.1.2 6.58E-06
7435 17 P/L 26 rs540312596 0.5275 None 1000 genomes 1.99681E-04
7435 17 P/S 26 rs375037712 0.5275 None gnomAD-2.1.1 2.86E-05
7435 17 P/S 26 rs375037712 0.5275 None gnomAD-3.1.2 3.94E-05
7435 17 P/S 26 rs375037712 0.5275 None gnomAD-4.0.0 3.96699E-05
7436 18 V/A 28 rs760391619 0.2365 None gnomAD-2.1.1 1.61E-05
7436 18 V/A 28 rs760391619 0.2365 None gnomAD-3.1.2 6.57E-06
7436 18 V/A 28 rs760391619 0.2365 None gnomAD-4.0.0 6.19826E-06
7436 18 V/D 28 rs760391619 0.2365 None gnomAD-2.1.1 7.15E-06
7436 18 V/D 28 rs760391619 0.2365 None gnomAD-3.1.2 6.57E-06
7436 18 V/D 28 rs760391619 0.2365 None gnomAD-4.0.0 3.71896E-06
7437 19 T/I 29 rs1163896021 0.3920 None gnomAD-2.1.1 4.03E-06
7437 19 T/I 29 rs1163896021 0.3920 None gnomAD-4.0.0 6.84371E-07
7437 19 T/K 29 None 0.3920 None gnomAD-4.0.0 6.84371E-07
7438 20 L/F 30 rs371114946 0.2076 None gnomAD-2.1.1 2.5E-05
7438 20 L/F 30 rs371114946 0.2076 None gnomAD-3.1.2 7.23E-05
7438 20 L/F 30 rs371114946 0.2076 None gnomAD-4.0.0 1.21799E-05
7439 21 T/I 31 rs2078562379 0.4455 None gnomAD-4.0.0 1.59206E-06
7439 21 T/P 31 rs772268509 0.4455 None gnomAD-2.1.1 4.03E-06
7439 21 T/P 31 rs772268509 0.4455 None gnomAD-4.0.0 1.36871E-06
7440 22 C/F 33 rs2154302041 0.1448 None gnomAD-4.0.0 1.20032E-06
7440 22 C/Y 33 None 0.1448 None gnomAD-4.0.0 1.20032E-06
7441 23 R/G 34 None 0.4915 None gnomAD-4.0.0 2.05309E-06
7441 23 R/P 34 None 0.4915 None gnomAD-4.0.0 6.84359E-07
7441 23 R/Q 34 rs774382033 0.4915 None gnomAD-2.1.1 1.21E-05
7441 23 R/Q 34 rs774382033 0.4915 None gnomAD-3.1.2 2.63E-05
7441 23 R/Q 34 rs774382033 0.4915 None gnomAD-4.0.0 5.57865E-06
7445 27 S/T 41 None 0.7135 None gnomAD-4.0.0 1.59199E-06
7446 28 A/T 42 None 0.6805 None gnomAD-4.0.0 1.59196E-06
7447 29 P/S 43 rs749750693 0.6605 None gnomAD-2.1.1 4.03E-06
7447 29 P/S 43 rs749750693 0.6605 None gnomAD-3.1.2 6.58E-06
7447 29 P/S 43 rs749750693 0.6605 None gnomAD-4.0.0 2.47938E-06
7448 30 I/T 44 rs878854293 0.2838 None gnomAD-4.0.0 4.80129E-06
7448 30 I/V 44 rs1349950887 0.2838 None gnomAD-3.1.2 6.57E-06
7448 30 I/V 44 rs1349950887 0.2838 None gnomAD-4.0.0 2.56325E-06
7449 31 Q/L 45 rs1269849836 0.7539 None gnomAD-2.1.1 4.03E-06
7449 31 Q/L 45 rs1269849836 0.7539 None gnomAD-4.0.0 1.59197E-06
7450 32 V/A 46 None 0.3082 None gnomAD-4.0.0 2.05301E-06
7450 32 V/L 46 rs1195511070 0.3082 None gnomAD-2.1.1 8.05E-06
7450 32 V/L 46 rs1195511070 0.3082 None gnomAD-4.0.0 3.1839E-06
7453 35 Y/C 49 rs753063571 0.3497 None gnomAD-4.0.0 2.40066E-06
7453 35 Y/N 49 None 0.3497 None gnomAD-4.0.0 1.23181E-05
7454 36 R/K 50 rs727504464 0.3948 None gnomAD-2.1.1 4.03E-06
7454 36 R/K 50 rs727504464 0.3948 None gnomAD-4.0.0 5.47466E-06
7455 37 D/E 51 rs756430663 0.5412 None gnomAD-2.1.1 4.03E-06
7455 37 D/E 51 rs756430663 0.5412 None gnomAD-4.0.0 1.36869E-06
7456 38 G/E 52 rs1318521268 0.4776 None gnomAD-2.1.1 4.03E-06
7456 38 G/E 52 rs1318521268 0.4776 None gnomAD-4.0.0 1.59202E-06
7456 38 G/R 52 rs1244883494 0.4776 None gnomAD-2.1.1 3.19E-05
7456 38 G/R 52 rs1244883494 0.4776 None gnomAD-3.1.2 6.58E-06
7456 38 G/R 52 rs1244883494 0.4776 None gnomAD-4.0.0 6.57687E-06
7457 39 V/I 55 rs1365674340 0.6351 None gnomAD-2.1.1 3.19E-05
7457 39 V/I 55 rs1365674340 0.6351 None gnomAD-3.1.2 6.58E-06
7457 39 V/I 55 rs1365674340 0.6351 None gnomAD-4.0.0 2.56347E-06
7459 41 L/S 58 None 0.2303 None gnomAD-4.0.0 1.59201E-06
7460 42 R/I 69 None 0.8418 None gnomAD-4.0.0 1.59202E-06
7461 43 D/E 70 rs376383610 0.4561 None gnomAD-4.0.0 1.36872E-06
7462 44 D/E 73 rs183482849 0.4062 None gnomAD-2.1.1 1.18103E-04
7462 44 D/E 73 rs183482849 0.4062 None gnomAD-3.1.2 4.6E-05
7462 44 D/E 73 rs183482849 0.4062 None 1000 genomes 1.99681E-04
7462 44 D/E 73 rs183482849 0.4062 None gnomAD-4.0.0 1.3687E-06
7462 44 D/G 73 rs750133852 0.4062 None gnomAD-2.1.1 1.79E-05
7462 44 D/G 73 rs750133852 0.4062 None gnomAD-3.1.2 5.92E-05
7462 44 D/G 73 rs750133852 0.4062 None gnomAD-4.0.0 1.0537E-05
7462 44 D/H 73 rs12693166 0.4062 None gnomAD-2.1.1 1.76716E-01
7462 44 D/H 73 rs12693166 0.4062 None gnomAD-3.1.2 1.70045E-01
7462 44 D/H 73 rs12693166 0.4062 None 1000 genomes 2.47005E-01
7462 44 D/H 73 rs12693166 0.4062 None gnomAD-4.0.0 1.64438E-01
7462 44 D/N 73 rs12693166 0.4062 None gnomAD-2.1.1 2.82E-05
7462 44 D/N 73 rs12693166 0.4062 None gnomAD-3.1.2 6.58E-06
7462 44 D/N 73 rs12693166 0.4062 None gnomAD-4.0.0 3.71935E-06
7463 45 E/G 102 None 1.0502 None gnomAD-4.0.0 1.59199E-06
7464 46 N/D 115 rs879082137 0.2632 None gnomAD-4.0.0 1.36869E-05
7466 48 Q/H 122 rs1378606339 0.4512 None gnomAD-4.0.0 1.59206E-06
7467 49 T/I 123 rs967100948 0.3503 None gnomAD-3.1.2 1.32E-05
7467 49 T/I 123 rs967100948 0.3503 None gnomAD-4.0.0 1.31524E-05
7469 51 F/L 127 rs1299411121 0.3365 None gnomAD-2.1.1 4.04E-06
7469 51 F/L 127 rs1299411121 0.3365 None gnomAD-4.0.0 2.05308E-06
7469 51 F/S 127 rs575403603 0.3365 None gnomAD-2.1.1 4.04E-06
7469 51 F/S 127 rs575403603 0.3365 None gnomAD-3.1.2 6.58E-06
7469 51 F/S 127 rs575403603 0.3365 None 1000 genomes 1.99681E-04
7469 51 F/S 127 rs575403603 0.3365 None gnomAD-4.0.0 2.56313E-06
7470 52 V/A 130 rs1429215263 0.6572 None gnomAD-2.1.1 4.04E-06
7470 52 V/A 130 rs1429215263 0.6572 None gnomAD-4.0.0 1.36874E-06
7471 53 D/G 131 rs760724710 0.8530 None gnomAD-2.1.1 1.61E-05
7471 53 D/G 131 rs760724710 0.8530 None gnomAD-4.0.0 1.59212E-05
7471 53 D/N 131 rs1174976870 0.8530 None gnomAD-2.1.1 4.04E-06
7471 53 D/N 131 rs1174976870 0.8530 None gnomAD-4.0.0 1.59219E-06
7472 54 N/D 134 rs1174856533 0.4072 None gnomAD-3.1.2 6.57E-06
7472 54 N/D 134 rs1174856533 0.4072 None gnomAD-4.0.0 2.56343E-06
7473 55 V/L 135 None 0.2656 None gnomAD-4.0.0 6.84384E-07
7473 55 V/M 135 rs775242103 0.2656 None gnomAD-2.1.1 7.17E-06
7473 55 V/M 135 rs775242103 0.2656 None gnomAD-3.1.2 6.57E-06
7473 55 V/M 135 rs775242103 0.2656 None gnomAD-4.0.0 5.57877E-06
7474 56 A/T 136 rs759713604 0.1087 None gnomAD-2.1.1 1.21931E-04
7474 56 A/T 136 rs759713604 0.1087 None gnomAD-3.1.2 7.24E-05
7474 56 A/T 136 rs759713604 0.1087 None gnomAD-4.0.0 2.69038E-04
7475 57 T/A 137 None 0.2362 None gnomAD-4.0.0 1.59232E-06
7475 57 T/S 137 None 0.2362 None gnomAD-4.0.0 1.59236E-06
7476 58 L/F 138 rs1196470508 0.0911 None gnomAD-2.1.1 7.18E-06
7476 58 L/F 138 rs1196470508 0.0911 None gnomAD-3.1.2 6.57E-06
7476 58 L/F 138 rs1196470508 0.0911 None gnomAD-4.0.0 7.6915E-06
7476 58 L/S 138 rs1330405287 0.0911 None gnomAD-3.1.2 6.57E-06
7476 58 L/S 138 rs1330405287 0.0911 None gnomAD-4.0.0 2.03002E-06
7477 59 K/T 139 rs774575742 0.5167 None gnomAD-2.1.1 4.04E-06
7478 60 I/M 140 None 0.1537 None gnomAD-4.0.0 1.20032E-06
7478 60 I/N 140 None 0.1537 None gnomAD-4.0.0 1.20032E-06
7478 60 I/S 140 rs912873564 0.1537 None gnomAD-3.1.2 6.58E-06
7478 60 I/S 140 rs912873564 0.1537 None gnomAD-4.0.0 6.57644E-06
7478 60 I/V 140 rs1191020503 0.1537 None gnomAD-2.1.1 9.56E-05
7478 60 I/V 140 rs1191020503 0.1537 None gnomAD-3.1.2 1.97E-05
7478 60 I/V 140 rs1191020503 0.1537 None gnomAD-4.0.0 6.19901E-06
7480 62 Q/P 143 rs201065037 0.7055 None gnomAD-2.1.1 1.47131E-04
7480 62 Q/P 143 rs201065037 0.7055 None gnomAD-3.1.2 1.7092E-04
7480 62 Q/P 143 rs201065037 0.7055 None gnomAD-4.0.0 2.34935E-04
7481 63 T/I 144 None 0.1697 None gnomAD-4.0.0 6.84444E-07
7481 63 T/N 144 None 0.1697 None gnomAD-4.0.0 1.36889E-06
7482 64 D/H 145 None 0.3467 None gnomAD-4.0.0 1.20032E-06
7482 64 D/V 145 rs558855070 0.3467 None gnomAD-2.1.1 4.04E-06
7482 64 D/V 145 rs558855070 0.3467 None gnomAD-3.1.2 6.58E-06
7482 64 D/V 145 rs558855070 0.3467 None 1000 genomes 1.99681E-04
7482 64 D/V 145 rs558855070 0.3467 None gnomAD-4.0.0 2.56379E-06
7484 66 S/I 148 None 0.4436 None gnomAD-4.0.0 1.59273E-06
7484 66 S/R 148 None 0.4436 None gnomAD-4.0.0 1.59268E-06
7485 67 H/N 149 rs1372592118 0.3109 None gnomAD-3.1.2 6.57E-06
7485 67 H/N 149 rs1372592118 0.3109 None gnomAD-4.0.0 2.47982E-06
7486 68 S/C 151 rs879108235 0.3885 None gnomAD-2.1.1 4.05E-06
7488 70 Q/L 153 rs959952502 0.5040 None gnomAD-4.0.0 6.16171E-06
7490 72 S/C 155 rs781659636 0.2032 None gnomAD-2.1.1 4.06E-06
7490 72 S/C 155 rs781659636 0.2032 None gnomAD-4.0.0 1.59472E-06
7492 74 S/L 157 rs745460696 0.2920 None gnomAD-2.1.1 4.07E-06
7492 74 S/L 157 rs745460696 0.2920 None gnomAD-4.0.0 2.05522E-06
7494 76 S/C 159 None 0.2872 None gnomAD-4.0.0 6.85514E-07
7494 76 S/Y 159 rs778434653 0.2872 None gnomAD-2.1.1 1.22E-05
7494 76 S/Y 159 rs778434653 0.2872 None gnomAD-3.1.2 6.57E-06
7494 76 S/Y 159 rs778434653 0.2872 None gnomAD-4.0.0 1.05531E-05
7497 79 L/F 163 None 0.9818 None gnomAD-4.0.0 1.60301E-06
7498 80 G/E 164 None 0.3813 None gnomAD-4.0.0 1.60706E-06
7499 81 T/A 165 rs2078525840 0.6718 None gnomAD-3.1.2 6.57E-06
7499 81 T/A 165 rs2078525840 0.6718 None gnomAD-4.0.0 5.16597E-06
7499 81 T/I 165 None 0.6718 None gnomAD-4.0.0 3.21709E-06
7500 82 A/S 166 rs1204148672 0.3398 None gnomAD-4.0.0 6.88547E-07
7500 82 A/V 166 rs1560689342 0.3398 None gnomAD-3.1.2 6.57E-06
7500 82 A/V 166 rs1560689342 0.3398 None gnomAD-4.0.0 6.57177E-06
7503 85 S/R 171 None 0.4077 None gnomAD-4.0.0 3.45723E-06
7504 86 A/T 172 rs753276275 0.1471 None gnomAD-2.1.1 7.53E-06
7504 86 A/T 172 rs753276275 0.1471 None gnomAD-3.1.2 1.97E-05
7504 86 A/T 172 rs753276275 0.1471 None gnomAD-4.0.0 2.12875E-05
7504 86 A/V 172 None 0.1471 None gnomAD-4.0.0 9.00044E-06
7505 87 R/G 173 rs372826489 0.5368 None gnomAD-2.1.1 8.65E-06
7505 87 R/G 173 rs372826489 0.5368 None gnomAD-3.1.2 1.97E-05
7505 87 R/G 173 rs372826489 0.5368 None gnomAD-4.0.0 6.27575E-06
7505 87 R/K 173 None 0.5368 None gnomAD-4.0.0 1.38868E-06
7505 87 R/S 173 rs1444059423 0.5368 None gnomAD-2.1.1 4.35E-06
7505 87 R/S 173 rs1444059423 0.5368 None gnomAD-4.0.0 1.64859E-06
7508 90 A/S 177 rs1241417806 0.3176 None gnomAD-3.1.2 6.57E-06
7508 90 A/S 177 rs1241417806 0.3176 None gnomAD-4.0.0 2.68796E-06
7508 90 A/T 177 rs1241417806 0.3176 None gnomAD-2.1.1 4.56E-06