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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
28450 1 K/N 1 rs373453778 0.6491 None gnomAD-2.1.1 8.05E-06
28450 1 K/N 1 rs373453778 0.6491 None gnomAD-3.1.2 6.57E-06
28450 1 K/N 1 rs373453778 0.6491 None gnomAD-4.0.0 3.42125E-06
28451 2 P/S 2 rs727503554 0.1403 None gnomAD-2.1.1 3.19E-05
28451 2 P/S 2 rs727503554 0.1403 None gnomAD-3.1.2 1.31E-05
28451 2 P/S 2 rs727503554 0.1403 None gnomAD-4.0.0 3.09865E-06
28453 4 P/S 4 None 0.3710 None gnomAD-4.0.0 2.40064E-06
28454 5 P/L 5 rs747983822 0.1133 None gnomAD-3.1.2 1.31E-05
28454 5 P/L 5 rs747983822 0.1133 None gnomAD-4.0.0 1.31422E-05
28454 5 P/Q 5 rs747983822 0.1133 None gnomAD-3.1.2 6.57E-06
28454 5 P/Q 5 rs747983822 0.1133 None gnomAD-4.0.0 6.57108E-06
28456 7 G/E 7 None 0.5242 None gnomAD-4.0.0 1.20032E-06
28457 8 P/A 8 rs947719918 0.6888 None gnomAD-4.0.0 6.84245E-07
28457 8 P/S 8 None 0.6888 None gnomAD-4.0.0 6.84245E-07
28458 9 L/P 9 rs776361284 0.1259 None gnomAD-2.1.1 7.15E-06
28458 9 L/P 9 rs776361284 0.1259 None gnomAD-3.1.2 1.31E-05
28458 9 L/P 9 rs776361284 0.1259 None gnomAD-4.0.0 3.09861E-06
28460 11 I/M 12 rs768545532 0.2315 None gnomAD-2.1.1 1.43E-05
28460 11 I/M 12 rs768545532 0.2315 None gnomAD-3.1.2 3.29E-05
28460 11 I/M 12 rs768545532 0.2315 None gnomAD-4.0.0 5.57732E-06
28463 14 L/F 15 None 0.3438 None gnomAD-4.0.0 1.20032E-06
28463 14 L/R 15 None 0.3438 None gnomAD-4.0.0 1.59144E-06
28464 15 T/N 16 rs1234280926 0.3464 None gnomAD-3.1.2 6.57E-06
28464 15 T/N 16 rs1234280926 0.3464 None gnomAD-4.0.0 3.71824E-06
28465 16 A/S 17 rs780381193 0.2072 None gnomAD-2.1.1 4.03E-06
28465 16 A/S 17 rs780381193 0.2072 None gnomAD-3.1.2 6.57E-06
28466 17 E/D 18 rs758571306 0.7108 None gnomAD-2.1.1 4.03E-06
28466 17 E/K 18 rs878880701 0.7108 None gnomAD-2.1.1 4.03E-06
28466 17 E/K 18 rs878880701 0.7108 None gnomAD-4.0.0 3.42126E-06
28468 19 C/G 20 None 0.1035 None gnomAD-4.0.0 1.3685E-06
28468 19 C/R 20 rs1553563147 0.1035 None gnomAD-4.0.0 2.737E-06
28469 20 S/C 21 rs202040332 0.3081 None gnomAD-2.1.1 2.15129E-03
28469 20 S/C 21 rs202040332 0.3081 None gnomAD-3.1.2 1.42602E-03
28469 20 S/C 21 rs202040332 0.3081 None 1000 genomes 9.98403E-04
28469 20 S/C 21 rs202040332 0.3081 None gnomAD-4.0.0 8.76862E-04
28469 20 S/P 21 None 0.3081 None gnomAD-4.0.0 1.3685E-06
28470 21 L/V 22 None 0.1196 None gnomAD-4.0.0 1.36855E-06
28471 22 S/A 23 rs1185011450 0.2518 None gnomAD-2.1.1 4.03E-06
28471 22 S/A 23 rs1185011450 0.2518 None gnomAD-4.0.0 1.59153E-06
28473 24 G/E 25 rs911764199 0.2211 None gnomAD-2.1.1 4.03E-06
28473 24 G/E 25 rs911764199 0.2211 None gnomAD-3.1.2 6.57E-06
28473 24 G/E 25 rs911764199 0.2211 None gnomAD-4.0.0 6.57315E-06
28473 24 G/R 25 rs779477617 0.2211 None gnomAD-2.1.1 8.05E-06
28473 24 G/R 25 rs779477617 0.2211 None gnomAD-3.1.2 6.58E-06
28473 24 G/R 25 rs779477617 0.2211 None gnomAD-4.0.0 3.84431E-06
28473 24 G/V 25 None 0.2211 None gnomAD-4.0.0 1.59166E-06
28474 25 R/C 26 rs757771061 0.7877 None gnomAD-2.1.1 2.86E-05
28474 25 R/C 26 rs757771061 0.7877 None gnomAD-3.1.2 1.97E-05
28474 25 R/C 26 rs757771061 0.7877 None gnomAD-4.0.0 1.42549E-05
28474 25 R/H 26 rs754356257 0.7877 None gnomAD-2.1.1 1.68043E-04
28474 25 R/H 26 rs754356257 0.7877 None gnomAD-3.1.2 3.29E-05
28474 25 R/H 26 rs754356257 0.7877 None gnomAD-4.0.0 8.98657E-05
28475 26 P/L 27 None 0.1871 None gnomAD-4.0.0 2.73718E-06
28478 29 D/N 30 rs375744985 0.3102 None gnomAD-2.1.1 8.05E-06
28478 29 D/N 30 rs375744985 0.3102 None gnomAD-3.1.2 3.29E-05
28478 29 D/N 30 rs375744985 0.3102 None gnomAD-4.0.0 7.43695E-06
28479 30 G/S 31 rs1575615400 0.3336 None gnomAD-4.0.0 6.00161E-06
28480 31 G/D 32 rs1703319018 0.6175 None gnomAD-3.1.2 6.57E-06
28480 31 G/D 32 rs1703319018 0.6175 None gnomAD-4.0.0 2.56267E-06
28480 31 G/S 32 None 0.6175 None gnomAD-4.0.0 6.8427E-07
28482 33 D/A 34 None 1.0056 None gnomAD-4.0.0 1.20032E-06
28482 33 D/H 34 rs762526051 1.0056 None gnomAD-2.1.1 4.03E-06
28482 33 D/N 34 rs762526051 1.0056 None gnomAD-2.1.1 4.03E-06
28482 33 D/N 34 rs762526051 1.0056 None gnomAD-4.0.0 1.59161E-06
28483 34 I/V 35 None 0.2459 None gnomAD-4.0.0 1.59159E-06
28484 35 D/E 36 rs768596884 0.5289 None gnomAD-2.1.1 4.03E-06
28484 35 D/E 36 rs768596884 0.5289 None gnomAD-4.0.0 6.8429E-07
28484 35 D/N 36 None 0.5289 None gnomAD-2.1.1 2.86E-05
28484 35 D/N 36 None 0.5289 None gnomAD-3.1.2 6.58E-05
28484 35 D/N 36 None 0.5289 None gnomAD-4.0.0 3.34689E-05
28484 35 D/Y 36 rs56330345 0.5289 None gnomAD-3.1.2 1.32E-05
28484 35 D/Y 36 rs56330345 0.5289 None gnomAD-4.0.0 1.42553E-05
28485 36 Y/C 37 rs746763202 0.3746 None gnomAD-2.1.1 8.06E-06
28485 36 Y/C 37 rs746763202 0.3746 None gnomAD-4.0.0 7.95821E-06
28486 37 Y/C 38 None 0.1327 None gnomAD-4.0.0 1.20032E-06
28487 38 I/V 39 rs375122794 0.2874 None gnomAD-4.0.0 1.20032E-06
28488 39 V/I 40 rs377264123 0.1077 None gnomAD-2.1.1 6.8E-05
28488 39 V/I 40 rs377264123 0.1077 None gnomAD-3.1.2 6.57E-05
28488 39 V/I 40 rs377264123 0.1077 None gnomAD-4.0.0 3.40879E-05
28490 41 K/N 42 rs772128356 0.2717 None gnomAD-2.1.1 8.06E-06
28490 41 K/N 42 rs772128356 0.2717 None gnomAD-3.1.2 6.57E-06
28490 41 K/N 42 rs772128356 0.2717 None gnomAD-4.0.0 2.73717E-06
28491 42 R/C 43 rs746090724 0.2207 None gnomAD-2.1.1 5.37E-05
28491 42 R/C 43 rs746090724 0.2207 None gnomAD-3.1.2 1.97E-05
28491 42 R/C 43 rs746090724 0.2207 None gnomAD-4.0.0 2.16931E-05
28491 42 R/H 43 rs373129706 0.2207 None gnomAD-2.1.1 1.10946E-04
28491 42 R/H 43 rs373129706 0.2207 None gnomAD-3.1.2 7.23E-05
28491 42 R/H 43 rs373129706 0.2207 None gnomAD-4.0.0 5.82597E-05
28492 43 E/G 44 None 0.1958 None gnomAD-4.0.0 2.05284E-06
28492 43 E/K 44 None 0.1958 None gnomAD-4.0.0 1.20032E-06
28492 43 E/Q 44 None 0.1958 None gnomAD-4.0.0 1.20032E-06
28492 43 E/V 44 rs771012463 0.1958 None gnomAD-2.1.1 4.03E-06
28492 43 E/V 44 rs771012463 0.1958 None gnomAD-4.0.0 1.36856E-06
28493 44 T/A 50 rs369907507 0.3631 None gnomAD-2.1.1 4.03E-06
28493 44 T/A 50 rs369907507 0.3631 None gnomAD-3.1.2 1.97E-05
28493 44 T/A 50 rs369907507 0.3631 None gnomAD-4.0.0 4.40021E-05
28493 44 T/K 50 rs1703288626 0.3631 None gnomAD-3.1.2 6.57E-06
28493 44 T/K 50 rs1703288626 0.3631 None gnomAD-4.0.0 3.84433E-06
28494 45 S/G 54 rs749807293 0.5487 None gnomAD-2.1.1 4.03E-06
28494 45 S/G 54 rs749807293 0.5487 None gnomAD-3.1.2 6.57E-06
28494 45 S/G 54 rs749807293 0.5487 None gnomAD-4.0.0 3.84381E-06
28495 46 H/L 60 rs554119186 0.6470 None gnomAD-2.1.1 8.07E-06
28495 46 H/L 60 rs554119186 0.6470 None gnomAD-3.1.2 5.26E-05
28495 46 H/L 60 rs554119186 0.6470 None 1000 genomes 1.99681E-04
28495 46 H/L 60 rs554119186 0.6470 None gnomAD-4.0.0 1.40926E-05
28497 48 A/P 64 None 0.5483 None gnomAD-4.0.0 6.84286E-07
28497 48 A/S 64 None 0.5483 None gnomAD-4.0.0 6.84286E-07
28498 49 W/R 65 rs1488730809 0.2310 None gnomAD-2.1.1 4.03E-06
28498 49 W/R 65 rs1488730809 0.2310 None gnomAD-4.0.0 2.05285E-06
28498 49 W/S 65 rs756499458 0.2310 None gnomAD-2.1.1 4.03E-06
28499 50 T/K 66 rs1703270570 0.5009 None gnomAD-4.0.0 6.84306E-07
28500 51 I/V 67 rs752991005 0.5876 None gnomAD-2.1.1 4.03E-06
28500 51 I/V 67 rs752991005 0.5876 None gnomAD-3.1.2 6.57E-06
28500 51 I/V 67 rs752991005 0.5876 None gnomAD-4.0.0 6.57151E-06
28501 52 C/R 68 rs1559289598 0.2311 None gnomAD-2.1.1 4.03E-06
28501 52 C/R 68 rs1559289598 0.2311 None gnomAD-4.0.0 2.05291E-06
28501 52 C/S 68 rs1559289598 0.2311 None gnomAD-2.1.1 4.04E-06
28501 52 C/S 68 rs1559289598 0.2311 None gnomAD-4.0.0 1.59178E-06
28502 53 E/G 69 None 0.4361 None gnomAD-4.0.0 3.18351E-06
28503 54 G/E 70 rs1222429807 0.2977 None gnomAD-2.1.1 4.04E-06
28503 54 G/E 70 rs1222429807 0.2977 None gnomAD-4.0.0 6.8432E-07
28503 54 G/R 70 rs779691555 0.2977 None gnomAD-2.1.1 4.04E-06
28503 54 G/R 70 rs779691555 0.2977 None gnomAD-4.0.0 1.59181E-06
28504 55 E/K 75 rs876657670 0.7474 None gnomAD-3.1.2 6.57E-06
28504 55 E/K 75 rs876657670 0.7474 None gnomAD-4.0.0 6.57229E-06
28506 57 Q/H 83 rs1387892169 0.8778 None gnomAD-2.1.1 4.04E-06
28506 57 Q/H 83 rs1387892169 0.8778 None gnomAD-4.0.0 6.84319E-07
28506 57 Q/K 83 rs201272728 0.8778 None gnomAD-2.1.1 4.47859E-04
28506 57 Q/K 83 rs201272728 0.8778 None gnomAD-3.1.2 4.6681E-04
28506 57 Q/K 83 rs201272728 0.8778 None 1000 genomes 3.99361E-04
28506 57 Q/K 83 rs201272728 0.8778 None gnomAD-4.0.0 2.82616E-04
28507 58 M/I 88 None 0.6612 None gnomAD-4.0.0 6.84347E-07
28507 58 M/V 88 rs750081245 0.6612 None gnomAD-2.1.1 1.07E-05
28507 58 M/V 88 rs750081245 0.6612 None gnomAD-3.1.2 6.57E-06
28507 58 M/V 88 rs750081245 0.6612 None gnomAD-4.0.0 5.12587E-06
28509 60 S/F 90 rs1575614269 0.3644 None gnomAD-4.0.0 1.59209E-06
28509 60 S/T 90 rs1329788185 0.3644 None gnomAD-2.1.1 4.04E-06
28509 60 S/T 90 rs1329788185 0.3644 None gnomAD-4.0.0 1.36869E-06
28510 61 C/Y 91 None 0.2041 None gnomAD-4.0.0 1.20033E-06
28511 62 K/N 92 None 0.6355 None gnomAD-4.0.0 1.20032E-06
28512 63 V/A 93 rs1018186238 0.1787 None gnomAD-3.1.2 6.57E-06
28512 63 V/A 93 rs1018186238 0.1787 None gnomAD-4.0.0 6.57108E-06
28512 63 V/I 93 rs764706572 0.1787 None gnomAD-2.1.1 4.04E-06
28512 63 V/I 93 rs764706572 0.1787 None gnomAD-4.0.0 1.20032E-06
28513 64 T/I 94 None 0.4831 None gnomAD-4.0.0 1.36876E-06
28513 64 T/P 94 None 0.4831 None gnomAD-4.0.0 3.60098E-06
28514 65 K/N 96 None 0.8755 None gnomAD-4.0.0 1.20032E-06
28514 65 K/Q 96 rs1401382571 0.8755 None gnomAD-2.1.1 4.04E-06
28514 65 K/Q 96 rs1401382571 0.8755 None gnomAD-3.1.2 6.57E-06
28514 65 K/Q 96 rs1401382571 0.8755 None gnomAD-4.0.0 6.57134E-06
28516 67 L/F 98 rs13026702 0.5967 None gnomAD-3.1.2 6.58E-06
28516 67 L/F 98 rs13026702 0.5967 None gnomAD-4.0.0 6.57549E-06
28518 69 G/D 100 rs1464682626 0.2832 None gnomAD-2.1.1 3.19E-05
28518 69 G/D 100 rs1464682626 0.2832 None gnomAD-4.0.0 2.73779E-06
28519 70 N/K 102 rs1379450228 0.3325 None gnomAD-2.1.1 4.05E-06
28519 70 N/K 102 rs1379450228 0.3325 None gnomAD-4.0.0 1.59255E-06
28521 72 Y/C 104 rs1559288658 0.1047 None gnomAD-4.0.0 2.73773E-06
28522 73 I/T 105 rs372146722 0.1816 None gnomAD-2.1.1 8.09E-06
28522 73 I/T 105 rs372146722 0.1816 None gnomAD-3.1.2 1.31E-05
28522 73 I/T 105 rs372146722 0.1816 None gnomAD-4.0.0 1.36375E-05
28523 74 F/L 106 rs761341032 0.1116 None gnomAD-2.1.1 4.05E-06
28523 74 F/L 106 rs761341032 0.1116 None gnomAD-4.0.0 1.59251E-06
28524 75 R/I 107 None 0.1531 None gnomAD-4.0.0 2.0534E-06
28525 76 V/I 108 None 0.0758 None gnomAD-4.0.0 1.59253E-06
28527 78 G/A 110 None 0.1543 None gnomAD-4.0.0 6.84438E-07
28527 78 G/D 110 rs886038882 0.1543 None gnomAD-3.1.2 1.31E-05
28527 78 G/D 110 rs886038882 0.1543 None gnomAD-4.0.0 3.09951E-06
28527 78 G/S 110 rs1703237348 0.1543 None gnomAD-3.1.2 6.57E-06
28527 78 G/S 110 rs1703237348 0.1543 None gnomAD-4.0.0 6.57341E-06
28528 79 V/I 111 rs753861250 0.1430 None gnomAD-2.1.1 8.09E-06
28528 79 V/I 111 rs753861250 0.1430 None gnomAD-3.1.2 1.31E-05
28528 79 V/I 111 rs753861250 0.1430 None gnomAD-4.0.0 5.12769E-06
28530 81 K/E 113 None 0.8320 None gnomAD-4.0.0 1.20032E-06
28531 82 Y/C 114 None 0.7668 None gnomAD-4.0.0 6.84418E-07
28531 82 Y/F 114 rs1238497869 0.7668 None gnomAD-2.1.1 8.08E-06
28531 82 Y/F 114 rs1238497869 0.7668 None gnomAD-4.0.0 4.17495E-05
28533 84 V/I 117 None 0.6194 None gnomAD-4.0.0 1.59252E-06
28534 85 G/S 118 None 0.2045 None gnomAD-4.0.0 2.73782E-06
28535 86 E/D 119 None 0.5534 None gnomAD-4.0.0 6.84478E-07
28535 86 E/K 119 rs538803059 0.5534 None gnomAD-2.1.1 8.08E-06
28535 86 E/K 119 rs538803059 0.5534 None gnomAD-3.1.2 6.57E-06
28535 86 E/K 119 rs538803059 0.5534 None gnomAD-4.0.0 2.56405E-06
28535 86 E/Q 119 None 0.5534 None gnomAD-4.0.0 1.59256E-06
28536 87 P/T 120 rs1703229481 0.4283 None gnomAD-3.1.2 1.32E-05
28536 87 P/T 120 rs1703229481 0.4283 None gnomAD-4.0.0 3.84685E-06
28537 88 L/P 121 None 0.1468 None gnomAD-4.0.0 1.59253E-06
28538 89 E/K 122 None 0.3436 None gnomAD-4.0.0 1.20032E-06
28541 92 A/P 126 rs1342382839 0.2937 None gnomAD-2.1.1 4.04E-06
28541 92 A/P 126 rs1342382839 0.2937 None gnomAD-4.0.0 1.59348E-06
28542 93 I/L 127 rs554841820 0.1794 None gnomAD-2.1.1 8.08E-06
28542 93 I/L 127 rs554841820 0.1794 None gnomAD-4.0.0 2.73811E-06
28542 93 I/V 127 rs554841820 0.1794 None gnomAD-2.1.1 1.21E-05
28542 93 I/V 127 rs554841820 0.1794 None gnomAD-3.1.2 3.29E-05
28542 93 I/V 127 rs554841820 0.1794 None 1000 genomes 3.99361E-04
28542 93 I/V 127 rs554841820 0.1794 None gnomAD-4.0.0 1.11587E-05
28543 94 K/E 129 None 0.5273 None gnomAD-4.0.0 1.36907E-06
28544 95 A/V 130 rs775485220 0.0961 None gnomAD-2.1.1 1.08E-05
28544 95 A/V 130 rs775485220 0.0961 None gnomAD-3.1.2 1.32E-05
28544 95 A/V 130 rs775485220 0.0961 None gnomAD-4.0.0 3.848E-06
28545 96 L/V 131 None 0.6168 None gnomAD-4.0.0 6.84519E-07
28546 97 D/N 132 rs771897496 1.0564 None gnomAD-2.1.1 4.04E-06
28546 97 D/N 132 rs771897496 1.0564 None gnomAD-3.1.2 6.58E-06
28546 97 D/N 132 rs771897496 1.0564 None gnomAD-4.0.0 3.84715E-06
28546 97 D/V 132 None 1.0564 None gnomAD-4.0.0 1.59289E-06