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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
31308 1 R/K 1 None 0.7007 None gnomAD-4.0.0 1.36834E-06
31308 1 R/M 1 None 0.7007 None gnomAD-4.0.0 6.8417E-07
31309 2 P/L 2 rs1697796089 0.1060 None gnomAD-4.0.0 1.59106E-06
31310 3 G/C 3 None 0.2118 None gnomAD-4.0.0 1.59106E-06
31310 3 G/S 3 rs1697795255 0.2118 None gnomAD-4.0.0 1.59106E-06
31310 3 G/V 3 rs886043776 0.2118 None gnomAD-3.1.2 6.57E-06
31310 3 G/V 3 rs886043776 0.2118 None gnomAD-4.0.0 1.05343E-05
31312 5 V/A 5 None 0.1072 None gnomAD-4.0.0 6.8417E-07
31312 5 V/G 5 rs201344229 0.1072 None gnomAD-2.1.1 2.01E-05
31312 5 V/G 5 rs201344229 0.1072 None gnomAD-3.1.2 1.31E-05
31312 5 V/G 5 rs201344229 0.1072 None gnomAD-4.0.0 2.66451E-05
31312 5 V/I 5 None 0.1072 None gnomAD-4.0.0 6.84168E-07
31312 5 V/L 5 rs748475558 0.1072 None gnomAD-2.1.1 8.04E-06
31312 5 V/L 5 rs748475558 0.1072 None gnomAD-4.0.0 2.0525E-06
31314 7 G/S 7 rs368608059 0.5069 None gnomAD-2.1.1 1.21E-05
31314 7 G/S 7 rs368608059 0.5069 None gnomAD-3.1.2 2.63E-05
31314 7 G/S 7 rs368608059 0.5069 None gnomAD-4.0.0 9.29436E-06
31315 8 P/H 8 None 0.7405 None gnomAD-4.0.0 1.59103E-06
31315 8 P/S 8 rs1160417169 0.7405 None gnomAD-2.1.1 8.04E-06
31315 8 P/S 8 rs1160417169 0.7405 None gnomAD-4.0.0 3.18211E-06
31316 9 I/T 9 rs79459914 0.1459 None gnomAD-2.1.1 1.21E-05
31316 9 I/T 9 rs79459914 0.1459 None gnomAD-3.1.2 1.31E-05
31316 9 I/T 9 rs79459914 0.1459 None 1000 genomes 1.99681E-04
31316 9 I/T 9 rs79459914 0.1459 None gnomAD-4.0.0 5.57647E-06
31317 10 E/K 11 None 0.6528 None gnomAD-4.0.0 1.59105E-06
31319 12 S/P 13 None 0.3250 None gnomAD-4.0.0 1.20032E-06
31321 14 V/F 15 None 0.1907 None gnomAD-4.0.0 6.84169E-07
31321 14 V/I 15 rs794729535 0.1907 None gnomAD-2.1.1 4.02E-06
31321 14 V/I 15 rs794729535 0.1907 None gnomAD-4.0.0 1.36834E-06
31321 14 V/L 15 None 0.1907 None gnomAD-4.0.0 6.84169E-07
31322 15 S/L 16 rs879213271 0.1333 None gnomAD-4.0.0 1.20032E-06
31323 16 A/G 17 None 0.1638 None gnomAD-4.0.0 6.84173E-07
31323 16 A/P 17 rs1183094083 0.1638 None gnomAD-2.1.1 4.02E-06
31323 16 A/P 17 rs1183094083 0.1638 None gnomAD-4.0.0 1.59107E-06
31323 16 A/V 17 rs200345129 0.1638 None gnomAD-2.1.1 4.82E-05
31323 16 A/V 17 rs200345129 0.1638 None gnomAD-3.1.2 5.26E-05
31323 16 A/V 17 rs200345129 0.1638 None gnomAD-4.0.0 8.3035E-05
31325 18 S/L 19 rs143679526 0.1710 None gnomAD-2.1.1 1.61E-05
31325 18 S/L 19 rs143679526 0.1710 None gnomAD-3.1.2 2.63E-05
31325 18 S/L 19 rs143679526 0.1710 None 1000 genomes 3.99361E-04
31325 18 S/L 19 rs143679526 0.1710 None gnomAD-4.0.0 8.675E-06
31325 18 S/T 19 None 0.1710 None gnomAD-4.0.0 1.59105E-06
31326 19 C/Y 20 rs968969255 0.0875 None gnomAD-4.0.0 4.7733E-06
31327 20 V/A 21 rs998693629 0.1766 None gnomAD-2.1.1 3.19E-05
31327 20 V/A 21 rs998693629 0.1766 None gnomAD-3.1.2 1.31E-05
31327 20 V/A 21 rs998693629 0.1766 None gnomAD-4.0.0 5.07483E-06
31327 20 V/D 21 None 0.1766 None gnomAD-4.0.0 1.20032E-06
31327 20 V/L 21 None 0.1766 None gnomAD-4.0.0 1.20032E-06
31328 21 L/R 22 rs754710293 0.1066 None gnomAD-2.1.1 4.02E-06
31328 21 L/R 22 rs754710293 0.1066 None gnomAD-4.0.0 1.59107E-06
31330 23 W/G 24 None 0.1380 None gnomAD-4.0.0 4.80129E-06
31330 23 W/S 24 rs879156764 0.1380 None gnomAD-3.1.2 6.57E-06
31330 23 W/S 24 rs879156764 0.1380 None gnomAD-4.0.0 6.57203E-06
31331 24 G/E 25 None 0.2128 None gnomAD-4.0.0 2.73676E-06
31331 24 G/R 25 rs377660595 0.2128 None gnomAD-2.1.1 1.8091E-04
31331 24 G/R 25 rs377660595 0.2128 None gnomAD-3.1.2 3.94E-05
31331 24 G/R 25 rs377660595 0.2128 None 1000 genomes 1.99681E-04
31331 24 G/R 25 rs377660595 0.2128 None gnomAD-4.0.0 9.41826E-05
31332 25 E/V 26 rs766706869 0.6532 None gnomAD-2.1.1 1.21E-05
31332 25 E/V 26 rs766706869 0.6532 None gnomAD-4.0.0 9.54675E-06
31333 26 P/L 27 None 0.1516 None gnomAD-4.0.0 1.5911E-06
31333 26 P/S 27 None 0.1516 None gnomAD-4.0.0 3.1822E-06
31334 27 K/T 28 None 0.9365 None gnomAD-4.0.0 1.20032E-06
31335 28 D/A 29 None 0.2965 None gnomAD-4.0.0 1.36835E-06
31335 28 D/E 29 rs779852538 0.2965 None gnomAD-2.1.1 4.02E-06
31335 28 D/E 29 rs779852538 0.2965 None gnomAD-4.0.0 6.84172E-07
31335 28 D/G 29 None 0.2965 None gnomAD-4.0.0 6.84173E-07
31335 28 D/H 29 None 0.2965 None gnomAD-4.0.0 1.20032E-06
31336 29 G/R 30 None 0.1708 None gnomAD-4.0.0 3.18214E-06
31337 30 G/E 31 rs1397790466 0.0892 None gnomAD-3.1.2 6.57E-06
31337 30 G/E 31 rs1397790466 0.0892 None gnomAD-4.0.0 6.57194E-06
31337 30 G/R 31 rs796068366 0.0892 None gnomAD-2.1.1 1.43E-05
31337 30 G/R 31 rs796068366 0.0892 None gnomAD-3.1.2 6.57E-06
31337 30 G/R 31 rs796068366 0.0892 None gnomAD-4.0.0 5.12383E-06
31338 31 G/D 32 None 0.3224 None gnomAD-4.0.0 3.60097E-06
31338 31 G/R 32 rs1433208677 0.3224 None gnomAD-2.1.1 4.02E-06
31338 31 G/R 32 rs1433208677 0.3224 None gnomAD-4.0.0 1.59112E-06
31339 32 T/I 33 rs184078016 0.2416 None gnomAD-2.1.1 3.07081E-04
31339 32 T/I 33 rs184078016 0.2416 None gnomAD-3.1.2 1.11741E-04
31339 32 T/I 33 rs184078016 0.2416 None 1000 genomes 5.99042E-04
31339 32 T/I 33 rs184078016 0.2416 None gnomAD-4.0.0 1.87128E-04
31339 32 T/S 33 None 0.2416 None gnomAD-4.0.0 6.84177E-07
31341 34 I/M 35 None 0.1972 None gnomAD-4.0.0 1.59112E-06
31342 35 T/I 36 rs1697759975 0.3287 None gnomAD-3.1.2 6.57E-06
31342 35 T/I 36 rs1697759975 0.3287 None gnomAD-4.0.0 6.81647E-06
31342 35 T/S 36 None 0.3287 None gnomAD-4.0.0 6.84182E-07
31343 36 N/D 37 None 0.2689 None gnomAD-4.0.0 1.59111E-06
31344 37 Y/H 38 None 0.1020 None gnomAD-4.0.0 6.8418E-07
31344 37 Y/N 38 rs1697758190 0.1020 None gnomAD-4.0.0 6.8418E-07
31344 37 Y/S 38 rs762341884 0.1020 None gnomAD-2.1.1 4.02E-06
31345 38 I/T 39 rs1297026884 0.2285 None gnomAD-4.0.0 1.20032E-06
31345 38 I/V 39 rs756013336 0.2285 None gnomAD-2.1.1 4.02E-06
31345 38 I/V 39 rs756013336 0.2285 None gnomAD-3.1.2 1.31E-05
31345 38 I/V 39 rs756013336 0.2285 None gnomAD-4.0.0 6.81629E-06
31347 40 E/Q 41 rs886055230 0.1469 None gnomAD-3.1.2 6.57E-06
31347 40 E/Q 41 rs886055230 0.1469 None gnomAD-4.0.0 1.79338E-05
31348 41 K/M 42 rs769112668 0.2338 None gnomAD-2.1.1 7.24E-05
31348 41 K/M 42 rs769112668 0.2338 None gnomAD-4.0.0 2.80516E-05
31348 41 K/N 42 rs1450962474 0.2338 None gnomAD-2.1.1 4.02E-06
31348 41 K/Q 42 rs776880399 0.2338 None gnomAD-2.1.1 8.04E-06
31348 41 K/Q 42 rs776880399 0.2338 None gnomAD-4.0.0 1.59111E-06
31349 42 R/C 43 rs727503549 0.2971 None gnomAD-2.1.1 8.93E-05
31349 42 R/C 43 rs727503549 0.2971 None gnomAD-3.1.2 2.63E-05
31349 42 R/C 43 rs727503549 0.2971 None gnomAD-4.0.0 5.32947E-05
31349 42 R/G 43 rs727503549 0.2971 None gnomAD-2.1.1 4.02E-06
31349 42 R/H 43 rs181104321 0.2971 None gnomAD-2.1.1 2.22519E-03
31349 42 R/H 43 rs181104321 0.2971 None gnomAD-3.1.2 2.64279E-03
31349 42 R/H 43 rs181104321 0.2971 None 1000 genomes 1.19808E-03
31349 42 R/H 43 rs181104321 0.2971 None gnomAD-4.0.0 1.71084E-03
31349 42 R/L 43 rs181104321 0.2971 None gnomAD-2.1.1 4.02E-06
31350 43 E/Q 44 None 0.3935 None gnomAD-4.0.0 1.20032E-06
31351 44 S/L 50 rs794729536 0.5720 None gnomAD-2.1.1 4.02E-06
31351 44 S/L 50 rs794729536 0.5720 None gnomAD-4.0.0 1.36839E-05
31351 44 S/T 50 None 0.5720 None gnomAD-4.0.0 1.20032E-06
31352 45 G/A 54 rs769645414 0.7126 None gnomAD-2.1.1 8.05E-06
31352 45 G/A 54 rs769645414 0.7126 None gnomAD-4.0.0 1.36839E-06
31352 45 G/D 54 rs769645414 0.7126 None gnomAD-3.1.2 6.58E-06
31352 45 G/D 54 rs769645414 0.7126 None gnomAD-4.0.0 1.23944E-06
31352 45 G/V 54 None 0.7126 None gnomAD-4.0.0 6.84195E-07
31353 46 T/A 60 None 0.4229 None gnomAD-4.0.0 1.20032E-06
31354 47 T/I 63 rs930361700 0.9765 None gnomAD-3.1.2 1.31E-05
31354 47 T/I 63 rs930361700 0.9765 None gnomAD-4.0.0 3.7181E-06
31355 48 A/G 64 None 0.5030 None gnomAD-4.0.0 6.84203E-07
31355 48 A/P 64 None 0.5030 None gnomAD-4.0.0 6.84202E-07
31355 48 A/T 64 rs780964196 0.5030 None gnomAD-2.1.1 8.05E-06
31355 48 A/T 64 rs780964196 0.5030 None gnomAD-4.0.0 1.3684E-06
31355 48 A/V 64 rs370666551 0.5030 None gnomAD-2.1.1 2.5E-05
31355 48 A/V 64 rs370666551 0.5030 None gnomAD-3.1.2 1.97E-05
31355 48 A/V 64 rs370666551 0.5030 None gnomAD-4.0.0 3.03654E-05
31358 51 L/F 67 None 0.5088 None gnomAD-4.0.0 1.20032E-06
31359 52 V/I 68 rs780436747 0.2723 None gnomAD-2.1.1 3.57E-05
31359 52 V/I 68 rs780436747 0.2723 None gnomAD-3.1.2 3.29E-05
31359 52 V/I 68 rs780436747 0.2723 None gnomAD-4.0.0 5.20561E-05
31362 55 S/G 75 None 0.5495 None gnomAD-4.0.0 3.42112E-06
31362 55 S/R 75 None 0.5495 None gnomAD-4.0.0 6.84218E-07
31364 57 K/R 83 rs377256863 0.7914 None gnomAD-2.1.1 4.83E-05
31364 57 K/R 83 rs377256863 0.7914 None gnomAD-3.1.2 5.91E-05
31364 57 K/R 83 rs377256863 0.7914 None gnomAD-4.0.0 2.30591E-05
31365 58 R/C 88 rs372593328 0.8200 None gnomAD-2.1.1 2.15E-05
31365 58 R/C 88 rs372593328 0.8200 None gnomAD-3.1.2 3.29E-05
31365 58 R/C 88 rs372593328 0.8200 None gnomAD-4.0.0 1.23949E-05
31365 58 R/H 88 rs577262832 0.8200 None gnomAD-2.1.1 1.61E-05
31365 58 R/H 88 rs577262832 0.8200 None gnomAD-3.1.2 1.32E-05
31365 58 R/H 88 rs577262832 0.8200 None gnomAD-4.0.0 3.40871E-05
31365 58 R/L 88 rs577262832 0.8200 None gnomAD-2.1.1 4.03E-06
31365 58 R/L 88 rs577262832 0.8200 None gnomAD-4.0.0 1.36852E-06
31366 59 T/A 89 rs1369343605 0.2372 None gnomAD-2.1.1 4.03E-06
31366 59 T/A 89 rs1369343605 0.2372 None gnomAD-4.0.0 2.05276E-06
31366 59 T/I 89 None 0.2372 None gnomAD-4.0.0 1.20032E-06
31366 59 T/P 89 None 0.2372 None gnomAD-4.0.0 6.84255E-07
31367 60 Q/H 90 None 0.5527 None gnomAD-4.0.0 6.84259E-07
31368 61 I/S 91 None 0.1828 None gnomAD-4.0.0 2.40068E-06
31370 63 V/L 93 rs568049899 0.1454 None gnomAD-3.1.2 6.57E-06
31370 63 V/L 93 rs568049899 0.1454 None 1000 genomes 1.99681E-04
31370 63 V/L 93 rs568049899 0.1454 None gnomAD-4.0.0 6.56685E-06
31371 64 T/I 94 rs767255232 0.3967 None gnomAD-4.0.0 5.47441E-06
31372 65 H/L 96 rs761630773 0.9005 None gnomAD-2.1.1 4.03E-06
31372 65 H/L 96 rs761630773 0.9005 None gnomAD-4.0.0 2.0529E-06
31372 65 H/R 96 rs761630773 0.9005 None gnomAD-2.1.1 1.21E-05
31372 65 H/R 96 rs761630773 0.9005 None gnomAD-3.1.2 3.94E-05
31372 65 H/R 96 rs761630773 0.9005 None gnomAD-4.0.0 6.19749E-06
31372 65 H/Y 96 rs1349108221 0.9005 None gnomAD-3.1.2 6.57E-06
31372 65 H/Y 96 rs1349108221 0.9005 None gnomAD-4.0.0 2.56291E-06
31375 68 K/N 99 None 0.3521 None gnomAD-4.0.0 3.18424E-06
31376 69 Y/C 100 None 0.6729 None gnomAD-4.0.0 1.59235E-06
31376 69 Y/H 100 rs1434130834 0.6729 None gnomAD-3.1.2 6.57E-06
31376 69 Y/H 100 rs1434130834 0.6729 None gnomAD-4.0.0 1.8595E-06
31376 69 Y/N 100 None 0.6729 None gnomAD-4.0.0 2.73753E-06
31377 70 M/T 102 None 0.4461 None gnomAD-4.0.0 1.59257E-06
31378 71 E/A 103 None 0.3222 None gnomAD-4.0.0 1.36893E-06
31380 73 S/A 105 rs764500703 0.1806 None gnomAD-2.1.1 1.21E-05
31380 73 S/A 105 rs764500703 0.1806 None gnomAD-4.0.0 4.7789E-06
31381 74 F/S 106 rs751185223 0.1238 None gnomAD-2.1.1 4.05E-06
31381 74 F/S 106 rs751185223 0.1238 None gnomAD-3.1.2 6.57E-06
31381 74 F/S 106 rs751185223 0.1238 None gnomAD-4.0.0 1.30202E-05
31382 75 R/C 107 rs761156972 0.1467 None gnomAD-2.1.1 4.06E-06
31382 75 R/C 107 rs761156972 0.1467 None gnomAD-3.1.2 1.31E-05
31382 75 R/C 107 rs761156972 0.1467 None gnomAD-4.0.0 4.34113E-06
31382 75 R/H 107 rs775769975 0.1467 None gnomAD-2.1.1 7.21E-05
31382 75 R/H 107 rs775769975 0.1467 None gnomAD-3.1.2 1.97E-05
31382 75 R/H 107 rs775769975 0.1467 None gnomAD-4.0.0 4.4649E-05
31382 75 R/L 107 None 0.1467 None gnomAD-4.0.0 6.84793E-07
31383 76 V/I 108 rs1336482759 0.0885 None gnomAD-3.1.2 6.57E-06
31383 76 V/I 108 rs1336482759 0.0885 None gnomAD-4.0.0 6.57177E-06
31384 77 S/G 109 rs369254232 0.1222 None gnomAD-3.1.2 6.57E-06
31384 77 S/G 109 rs369254232 0.1222 None gnomAD-4.0.0 1.86045E-06
31386 79 E/A 111 rs772833696 0.2470 None gnomAD-2.1.1 8.15E-06
31386 79 E/A 111 rs772833696 0.2470 None gnomAD-4.0.0 6.16433E-06
31386 79 E/G 111 None 0.2470 None gnomAD-4.0.0 1.36985E-06
31387 80 N/K 112 rs1252079185 0.0886 None gnomAD-3.1.2 6.57E-06
31388 81 R/I 113 None 0.4750 None gnomAD-4.0.0 1.59618E-06
31389 82 F/C 114 None 0.2676 None gnomAD-4.0.0 6.85099E-07
31389 82 F/L 114 rs1232852062 0.2676 None gnomAD-2.1.1 4.09E-06
31389 82 F/L 114 rs1232852062 0.2676 None gnomAD-4.0.0 2.74035E-06
31389 82 F/Y 114 rs747608895 0.2676 None gnomAD-2.1.1 4.09E-06
31389 82 F/Y 114 rs747608895 0.2676 None gnomAD-4.0.0 6.85099E-07
31390 83 G/R 115 None 0.1988 None gnomAD-4.0.0 6.85294E-07
31390 83 G/S 115 rs201188767 0.1988 None gnomAD-2.1.1 4.1E-06
31390 83 G/S 115 rs201188767 0.1988 None gnomAD-4.0.0 2.74118E-06
31390 83 G/V 115 rs1044190833 0.1988 None gnomAD-4.0.0 1.597E-06
31391 84 V/I 117 None 0.3732 None gnomAD-4.0.0 6.85386E-07
31392 85 S/G 118 rs1274136681 0.1111 None gnomAD-3.1.2 6.57E-06
31392 85 S/G 118 rs1274136681 0.1111 None gnomAD-4.0.0 4.34563E-06
31392 85 S/I 118 None 0.1111 None gnomAD-4.0.0 1.59979E-06
31396 89 E/A 122 rs768420352 0.4423 None gnomAD-2.1.1 1.1E-05
31396 89 E/A 122 rs768420352 0.4423 None gnomAD-3.1.2 6.57E-06
31396 89 E/A 122 rs768420352 0.4423 None gnomAD-4.0.0 5.15432E-06
31396 89 E/G 122 None 0.4423 None gnomAD-4.0.0 1.603E-06
31398 91 A/T 124 rs779953838 0.5716 None gnomAD-2.1.1 1.66E-05
31398 91 A/T 124 rs779953838 0.5716 None gnomAD-4.0.0 4.84731E-06
31399 92 P/L 126 rs2154146664 0.5211 None gnomAD-4.0.0 1.6198E-06
31399 92 P/S 126 None 0.5211 None gnomAD-4.0.0 8.40268E-06
31400 93 I/T 127 rs1261202731 0.1626 None gnomAD-3.1.2 6.57E-06
31400 93 I/T 127 rs1261202731 0.1626 None gnomAD-4.0.0 6.57082E-06
31401 94 I/T 128 rs879001552 0.4533 None gnomAD-2.1.1 4.18E-06
31401 94 I/T 128 rs879001552 0.4533 None gnomAD-3.1.2 1.31E-05
31401 94 I/T 128 rs879001552 0.4533 None gnomAD-4.0.0 7.81057E-06
31402 95 A/S 130 rs794729537 0.0783 None gnomAD-4.0.0 6.90779E-07
31402 95 A/T 130 rs794729537 0.0783 None gnomAD-4.0.0 6.90779E-07
31403 96 E/K 131 rs746139438 0.4985 None gnomAD-2.1.1 8.47E-06
31403 96 E/K 131 rs746139438 0.4985 None gnomAD-4.0.0 2.76615E-06
31404 97 H/N 132 rs1409641656 0.6903 None gnomAD-4.0.0 1.63067E-06