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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
33291 2 P/Q 2 None 0.1066 None gnomAD-4.0.0 1.6557E-06
33293 4 K/E 4 None 0.5954 None gnomAD-4.0.0 1.20032E-06
33293 4 K/I 4 None 0.5954 None gnomAD-4.0.0 1.20032E-06
33294 5 P/S 5 None 0.1075 None gnomAD-4.0.0 6.92161E-07
33294 5 P/T 5 None 0.1075 None gnomAD-4.0.0 6.92161E-07
33296 7 G/E 7 rs771448420 0.4485 None gnomAD-4.0.0 2.40065E-06
33296 7 G/R 7 rs762113070 0.4485 None gnomAD-4.0.0 1.37916E-06
33297 8 P/L 8 rs369205591 0.7279 None gnomAD-2.1.1 8.17E-06
33297 8 P/L 8 rs369205591 0.7279 None gnomAD-4.0.0 1.61869E-06
33298 9 I/M 9 rs1487906230 0.1573 None gnomAD-4.0.0 3.2094E-06
33298 9 I/T 9 rs768876552 0.1573 None gnomAD-2.1.1 1.44E-05
33298 9 I/T 9 rs768876552 0.1573 None gnomAD-3.1.2 3.94E-05
33298 9 I/T 9 rs768876552 0.1573 None gnomAD-4.0.0 6.83855E-06
33298 9 I/V 9 rs1056550326 0.1573 None gnomAD-4.0.0 1.37353E-06
33299 10 V/A 11 rs794729554 0.3870 None gnomAD-2.1.1 4.05E-06
33299 10 V/A 11 rs794729554 0.3870 None gnomAD-3.1.2 6.57E-06
33299 10 V/A 11 rs794729554 0.3870 None gnomAD-4.0.0 3.86181E-06
33299 10 V/M 11 None 0.3870 None gnomAD-4.0.0 1.6051E-06
33300 11 I/V 12 None 0.2821 None gnomAD-4.0.0 1.37193E-06
33301 12 E/D 13 None 0.4820 None gnomAD-4.0.0 1.80048E-05
33301 12 E/G 13 None 0.4820 None gnomAD-4.0.0 2.40064E-06
33301 12 E/K 13 rs72648278 0.4820 None gnomAD-2.1.1 3.26605E-04
33301 12 E/K 13 rs72648278 0.4820 None gnomAD-3.1.2 3.81358E-04
33301 12 E/K 13 rs72648278 0.4820 None gnomAD-4.0.0 5.39021E-04
33302 13 A/G 14 None 0.2760 None gnomAD-4.0.0 1.59817E-06
33302 13 A/P 14 None 0.2760 None gnomAD-4.0.0 6.85583E-07
33302 13 A/T 14 rs1291047229 0.2760 None gnomAD-2.1.1 8.08E-06
33302 13 A/T 14 rs1291047229 0.2760 None gnomAD-4.0.0 2.74233E-06
33303 14 L/V 15 rs746345868 0.3074 None gnomAD-2.1.1 4.04E-06
33304 15 L/S 16 rs1691995704 0.2733 None gnomAD-4.0.0 1.59635E-06
33305 16 K/E 17 rs1553503789 0.6258 None gnomAD-3.1.2 1.31E-05
33305 16 K/E 17 rs1553503789 0.6258 None gnomAD-4.0.0 1.31427E-05
33305 16 K/N 17 None 0.6258 None gnomAD-4.0.0 1.59584E-06
33308 19 A/T 20 rs201226974 0.1162 None gnomAD-2.1.1 9.3E-05
33308 19 A/T 20 rs201226974 0.1162 None gnomAD-3.1.2 5.92E-05
33308 19 A/T 20 rs201226974 0.1162 None gnomAD-4.0.0 5.08347E-05
33313 24 K/N 25 rs1691982544 0.6458 None gnomAD-3.1.2 1.31E-05
33313 24 K/N 25 rs1691982544 0.6458 None gnomAD-4.0.0 1.31454E-05
33314 25 P/L 26 None 0.4331 None gnomAD-4.0.0 1.20033E-06
33314 25 P/S 26 rs754605294 0.4331 None gnomAD-2.1.1 3.58E-05
33314 25 P/S 26 rs754605294 0.4331 None gnomAD-3.1.2 4.6E-05
33314 25 P/S 26 rs754605294 0.4331 None gnomAD-4.0.0 1.17756E-05
33315 26 P/T 27 rs1401105733 0.1659 None gnomAD-2.1.1 4.03E-06
33315 26 P/T 27 rs1401105733 0.1659 None gnomAD-4.0.0 1.5916E-06
33316 27 A/T 28 rs374295768 0.7201 None gnomAD-2.1.1 2.50374E-04
33316 27 A/T 28 rs374295768 0.7201 None gnomAD-3.1.2 1.44604E-04
33316 27 A/T 28 rs374295768 0.7201 None 1000 genomes 1.99681E-04
33316 27 A/T 28 rs374295768 0.7201 None gnomAD-4.0.0 1.3634E-04
33316 27 A/V 28 rs1406589986 0.7201 None gnomAD-2.1.1 4.03E-06
33317 28 D/Y 29 rs1318907026 0.5917 None gnomAD-2.1.1 3.19E-05
33317 28 D/Y 29 rs1318907026 0.5917 None gnomAD-3.1.2 6.57E-06
33317 28 D/Y 29 rs1318907026 0.5917 None gnomAD-4.0.0 2.56257E-06
33318 29 D/H 30 rs750273902 0.3103 None gnomAD-2.1.1 4.03E-06
33318 29 D/H 30 rs750273902 0.3103 None gnomAD-4.0.0 1.59163E-06
33318 29 D/N 30 None 0.3103 None gnomAD-4.0.0 1.59163E-06
33319 30 G/R 31 rs72648279 0.3925 None gnomAD-2.1.1 1.21E-05
33319 30 G/R 31 rs72648279 0.3925 None gnomAD-3.1.2 6.57E-06
33319 30 G/R 31 rs72648279 0.3925 None gnomAD-4.0.0 1.79737E-05
33320 31 G/A 32 rs776541491 0.6125 None gnomAD-2.1.1 4.03E-06
33320 31 G/A 32 rs776541491 0.6125 None gnomAD-4.0.0 3.42149E-06
33320 31 G/R 32 None 0.6125 None gnomAD-4.0.0 6.84294E-07
33322 33 W/C 34 rs775769503 1.1613 None gnomAD-2.1.1 5.64E-05
33322 33 W/C 34 rs775769503 1.1613 None gnomAD-3.1.2 2.63E-05
33322 33 W/C 34 rs775769503 1.1613 None gnomAD-4.0.0 6.57194E-06
33322 33 W/G 34 rs760971514 1.1613 None gnomAD-2.1.1 4.03E-06
33322 33 W/G 34 rs760971514 1.1613 None gnomAD-4.0.0 1.36863E-06
33322 33 W/R 34 None 1.1613 None gnomAD-4.0.0 6.84313E-07
33323 34 I/F 35 rs1453366713 0.1956 None gnomAD-2.1.1 8.06E-06
33323 34 I/F 35 rs1453366713 0.1956 None gnomAD-3.1.2 6.57E-06
33323 34 I/F 35 rs1453366713 0.1956 None gnomAD-4.0.0 3.84423E-06
33326 37 Y/C 38 rs1337736297 0.1157 None gnomAD-2.1.1 4.03E-06
33326 37 Y/C 38 rs1337736297 0.1157 None gnomAD-4.0.0 1.20032E-06
33327 38 V/L 39 rs1219652014 0.2109 None gnomAD-2.1.1 4.03E-06
33327 38 V/L 39 rs1219652014 0.2109 None gnomAD-4.0.0 1.59208E-06
33328 39 V/M 40 rs372302484 0.1125 None gnomAD-2.1.1 3.94E-05
33328 39 V/M 40 rs372302484 0.1125 None gnomAD-3.1.2 1.05139E-04
33328 39 V/M 40 rs372302484 0.1125 None gnomAD-4.0.0 2.23136E-05
33330 41 K/I 42 None 0.1974 None gnomAD-4.0.0 1.20032E-06
33331 42 C/R 43 rs56061641 0.1008 None gnomAD-2.1.1 2.61592E-04
33331 42 C/R 43 rs56061641 0.1008 None gnomAD-3.1.2 2.95885E-04
33331 42 C/R 43 rs56061641 0.1008 None 1000 genomes 1.39776E-03
33331 42 C/R 43 rs56061641 0.1008 None gnomAD-4.0.0 2.12603E-04
33331 42 C/S 43 rs56061641 0.1008 None gnomAD-3.1.2 6.58E-06
33331 42 C/S 43 rs56061641 0.1008 None gnomAD-4.0.0 2.47952E-06
33332 43 E/G 44 rs1407789736 0.2534 None gnomAD-2.1.1 8.07E-06
33332 43 E/G 44 rs1407789736 0.2534 None gnomAD-3.1.2 6.57E-06
33332 43 E/G 44 rs1407789736 0.2534 None gnomAD-4.0.0 4.3393E-06
33332 43 E/K 44 rs1327630158 0.2534 None gnomAD-4.0.0 1.59249E-06
33333 44 A/G 50 rs746653975 0.3307 None gnomAD-2.1.1 4.04E-06
33333 44 A/G 50 rs746653975 0.3307 None gnomAD-4.0.0 6.84463E-07
33333 44 A/P 50 rs1171018948 0.3307 None gnomAD-2.1.1 4.04E-06
33333 44 A/V 50 None 0.3307 None gnomAD-4.0.0 6.84463E-07
33334 45 K/E 54 None 0.5207 None gnomAD-4.0.0 2.40064E-06
33334 45 K/R 54 rs1178919533 0.5207 None gnomAD-3.1.2 6.57E-06
33334 45 K/R 54 rs1178919533 0.5207 None gnomAD-4.0.0 2.5638E-06
33335 46 E/D 60 rs779632637 1.1427 None gnomAD-2.1.1 4.04E-06
33335 46 E/D 60 rs779632637 1.1427 None gnomAD-4.0.0 3.18546E-06
33335 46 E/K 60 None 1.1427 None gnomAD-4.0.0 4.10669E-06
33336 47 G/R 62 rs757783646 0.7106 None gnomAD-2.1.1 7.17E-06
33336 47 G/R 62 rs757783646 0.7106 None gnomAD-3.1.2 1.97E-05
33336 47 G/R 62 rs757783646 0.7106 None gnomAD-4.0.0 4.05977E-06
33339 50 W/G 65 None 0.3162 None gnomAD-4.0.0 3.0008E-05
33340 51 Q/K 66 rs558954116 0.5777 None gnomAD-2.1.1 2.42E-05
33340 51 Q/K 66 rs558954116 0.5777 None gnomAD-3.1.2 3.94E-05
33340 51 Q/K 66 rs558954116 0.5777 None 1000 genomes 1.99681E-04
33340 51 Q/K 66 rs558954116 0.5777 None gnomAD-4.0.0 1.23976E-05
33340 51 Q/P 66 rs1691940311 0.5777 None gnomAD-3.1.2 6.57E-06
33340 51 Q/P 66 rs1691940311 0.5777 None gnomAD-4.0.0 6.57229E-06
33341 52 L/S 67 None 0.4926 None gnomAD-4.0.0 1.59263E-06
33345 56 A/V 75 rs1559064081 0.5926 None gnomAD-4.0.0 1.5931E-06
33346 57 I/F 77 rs1436237460 0.2022 None gnomAD-2.1.1 4.04E-06
33346 57 I/F 77 rs1436237460 0.2022 None gnomAD-4.0.0 1.59283E-06
33347 58 S/P 83 rs1575319690 0.6645 None gnomAD-4.0.0 3.60097E-06
33348 59 V/A 88 rs957996377 0.5233 None gnomAD-3.1.2 6.57E-06
33348 59 V/A 88 rs957996377 0.5233 None gnomAD-4.0.0 3.84645E-06
33348 59 V/M 88 rs757184326 0.5233 None gnomAD-2.1.1 1.62E-05
33348 59 V/M 88 rs757184326 0.5233 None gnomAD-4.0.0 9.58358E-06
33350 61 T/I 90 rs370300135 0.3442 None gnomAD-2.1.1 1.25489E-04
33350 61 T/I 90 rs370300135 0.3442 None gnomAD-3.1.2 1.64292E-04
33350 61 T/I 90 rs370300135 0.3442 None 1000 genomes 5.99042E-04
33350 61 T/I 90 rs370300135 0.3442 None gnomAD-4.0.0 4.52519E-05
33351 62 C/Y 91 None 0.1585 None gnomAD-4.0.0 1.59303E-06
33352 63 R/G 92 rs1221389929 0.4980 None gnomAD-2.1.1 4.04E-06
33352 63 R/G 92 rs1221389929 0.4980 None gnomAD-4.0.0 1.59287E-06
33353 64 I/M 93 None 0.1145 None gnomAD-4.0.0 6.84473E-07
33353 64 I/T 93 rs138234724 0.1145 None gnomAD-2.1.1 4.3E-05
33353 64 I/T 93 rs138234724 0.1145 None gnomAD-3.1.2 1.05133E-04
33353 64 I/T 93 rs138234724 0.1145 None 1000 genomes 3.99361E-04
33353 64 I/T 93 rs138234724 0.1145 None gnomAD-4.0.0 2.60337E-05
33354 65 V/A 94 rs759484221 0.4650 None gnomAD-2.1.1 8.08E-06
33354 65 V/A 94 rs759484221 0.4650 None gnomAD-3.1.2 6.57E-06
33354 65 V/A 94 rs759484221 0.4650 None gnomAD-4.0.0 8.67887E-06
33354 65 V/M 94 rs879221791 0.4650 None gnomAD-2.1.1 3.18E-05
33354 65 V/M 94 rs879221791 0.4650 None gnomAD-3.1.2 6.57E-06
33354 65 V/M 94 rs879221791 0.4650 None gnomAD-4.0.0 1.85979E-06
33355 66 N/T 96 None 0.8287 None gnomAD-4.0.0 1.20032E-06
33357 68 T/I 98 None 0.5261 None gnomAD-4.0.0 6.84498E-07
33357 68 T/K 98 None 0.5261 None gnomAD-4.0.0 6.16048E-06
33358 69 E/A 99 None 0.4243 None gnomAD-4.0.0 1.36894E-06
33361 72 G/D 103 rs1466606975 0.1428 None gnomAD-2.1.1 3.19E-05
33361 72 G/D 103 rs1466606975 0.1428 None gnomAD-3.1.2 6.57E-06
33361 72 G/D 103 rs1466606975 0.1428 None gnomAD-4.0.0 1.23987E-06
33361 72 G/S 103 None 0.1428 None gnomAD-4.0.0 2.40065E-06
33362 73 Y/C 104 rs1378557058 0.1045 None gnomAD-2.1.1 4.04E-06
33362 73 Y/C 104 rs1378557058 0.1045 None gnomAD-3.1.2 6.57E-06
33362 73 Y/C 104 rs1378557058 0.1045 None gnomAD-4.0.0 2.56398E-06
33363 74 Y/F 105 rs774468606 0.3774 None gnomAD-2.1.1 3.63E-05
33363 74 Y/F 105 rs774468606 0.3774 None gnomAD-3.1.2 6.57E-06
33363 74 Y/F 105 rs774468606 0.3774 None gnomAD-4.0.0 8.6781E-06
33365 76 R/Q 107 rs55742743 0.1332 None gnomAD-2.1.1 1.24199E-02
33365 76 R/Q 107 rs55742743 0.1332 None gnomAD-3.1.2 1.26186E-02
33365 76 R/Q 107 rs55742743 0.1332 None 1000 genomes 4.79233E-03
33365 76 R/Q 107 rs55742743 0.1332 None gnomAD-4.0.0 1.8557E-02
33365 76 R/W 107 rs543226487 0.1332 None gnomAD-2.1.1 1.08E-05
33365 76 R/W 107 rs543226487 0.1332 None gnomAD-3.1.2 1.97E-05
33365 76 R/W 107 rs543226487 0.1332 None gnomAD-4.0.0 3.71948E-06
33366 77 V/F 108 None 0.0858 None gnomAD-4.0.0 6.84472E-07
33366 77 V/I 108 rs55675869 0.0858 None gnomAD-2.1.1 2.76972E-02
33366 77 V/I 108 rs55675869 0.0858 None gnomAD-3.1.2 2.15954E-02
33366 77 V/I 108 rs55675869 0.0858 None 1000 genomes 2.31629E-02
33366 77 V/I 108 rs55675869 0.0858 None gnomAD-4.0.0 2.36062E-02
33370 81 N/K 112 None 0.0977 None gnomAD-4.0.0 6.84449E-07
33371 82 T/I 113 rs2154137940 0.5817 None gnomAD-4.0.0 3.1849E-06
33372 83 F/C 114 None 0.7657 None gnomAD-4.0.0 6.84417E-07
33372 83 F/L 114 rs770089807 0.7657 None gnomAD-3.1.2 6.57E-06
33372 83 F/L 114 rs770089807 0.7657 None gnomAD-4.0.0 1.36897E-06
33372 83 F/S 114 rs1691894622 0.7657 None gnomAD-4.0.0 2.05325E-06
33372 83 F/Y 114 None 0.7657 None gnomAD-4.0.0 6.84417E-07
33373 84 G/A 115 None 0.1910 None gnomAD-4.0.0 1.59262E-06
33373 84 G/S 115 rs55880786 0.1910 None gnomAD-2.1.1 3.23E-05
33373 84 G/S 115 rs55880786 0.1910 None gnomAD-3.1.2 2.63E-05
33373 84 G/S 115 rs55880786 0.1910 None gnomAD-4.0.0 2.35552E-05
33374 85 I/V 117 None 0.4583 None gnomAD-4.0.0 1.36885E-06
33375 86 S/T 118 rs758043383 0.0889 None gnomAD-2.1.1 1.21E-05
33375 86 S/T 118 rs758043383 0.0889 None gnomAD-3.1.2 6.57E-06
33375 86 S/T 118 rs758043383 0.0889 None gnomAD-4.0.0 6.19876E-06
33376 87 D/E 119 rs1691887188 0.7073 None gnomAD-3.1.2 6.57E-06
33376 87 D/E 119 rs1691887188 0.7073 None gnomAD-4.0.0 6.84438E-07
33376 87 D/H 119 None 0.7073 None gnomAD-4.0.0 6.84445E-07
33376 87 D/N 119 None 0.7073 None gnomAD-4.0.0 6.84445E-07
33376 87 D/Y 119 None 0.7073 None gnomAD-4.0.0 6.84445E-07
33377 88 P/H 120 None 0.3631 None gnomAD-4.0.0 1.59254E-06
33379 90 E/G 122 None 0.3196 None gnomAD-4.0.0 2.40064E-06
33379 90 E/K 122 None 0.3196 None gnomAD-4.0.0 6.84462E-07
33380 91 V/E 123 rs1461056252 0.2079 None gnomAD-2.1.1 4.04E-06
33380 91 V/E 123 rs1461056252 0.2079 None gnomAD-4.0.0 7.96435E-06
33381 92 S/F 124 None 0.9110 None gnomAD-4.0.0 1.20032E-06
33381 92 S/P 124 None 0.9110 None gnomAD-4.0.0 1.20032E-06
33382 93 S/L 125 rs1212699230 0.5490 None gnomAD-2.1.1 4.04E-06
33382 93 S/L 125 rs1212699230 0.5490 None gnomAD-4.0.0 6.84559E-07
33383 94 V/A 126 rs1237202129 0.3933 None gnomAD-3.1.2 6.57E-06
33383 94 V/A 126 rs1237202129 0.3933 None gnomAD-4.0.0 2.56461E-06
33383 94 V/I 126 rs1691876264 0.3933 None gnomAD-4.0.0 3.18697E-06
33384 95 V/M 127 None 0.2026 None gnomAD-4.0.0 2.05431E-06
33385 96 I/T 128 None 0.3628 None gnomAD-4.0.0 1.59918E-06
33386 97 I/T 130 None 0.0852 None gnomAD-4.0.0 2.74622E-06
33386 97 I/V 130 rs1691868838 0.0852 None gnomAD-3.1.2 6.57E-06
33386 97 I/V 130 rs1691868838 0.0852 None gnomAD-4.0.0 1.24349E-06
33387 98 K/N 131 None 0.6473 None gnomAD-4.0.0 1.37387E-06
33388 99 S/G 132 None 0.4248 None gnomAD-4.0.0 1.61255E-06
33388 99 S/N 132 rs745406517 0.4248 None gnomAD-2.1.1 1.09E-05
33388 99 S/N 132 rs745406517 0.4248 None gnomAD-3.1.2 3.29E-05
33388 99 S/N 132 rs745406517 0.4248 None gnomAD-4.0.0 1.12185E-05
33388 99 S/R 132 None 0.4248 None gnomAD-4.0.0 2.40094E-06