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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
21866 1 S/I 1 None 0.4003 None gnomAD-4.0.0 6.87581E-07
21866 1 S/N 1 rs2048167359 0.4003 None gnomAD-3.1.2 6.58E-06
21866 1 S/N 1 rs2048167359 0.4003 None gnomAD-4.0.0 3.73501E-06
21867 2 V/A 2 None 0.9250 None gnomAD-4.0.0 3.21161E-06
21867 2 V/M 2 rs769884849 0.9250 None gnomAD-2.1.1 3.29E-05
21867 2 V/M 2 rs769884849 0.9250 None gnomAD-3.1.2 6.58E-06
21867 2 V/M 2 rs769884849 0.9250 None gnomAD-4.0.0 7.46802E-06
21868 3 A/V 3 None 0.3332 None gnomAD-4.0.0 1.60556E-06
21869 4 M/I 4 rs960935807 0.1490 None gnomAD-2.1.1 4.09E-06
21869 4 M/I 4 rs960935807 0.1490 None gnomAD-4.0.0 2.74647E-06
21869 4 M/T 4 None 0.1490 None gnomAD-4.0.0 2.05905E-06
21870 5 K/I 8 None 0.7611 None gnomAD-4.0.0 1.20032E-06
21870 5 K/N 8 None 0.7611 None gnomAD-4.0.0 4.80129E-06
21871 6 S/F 9 rs927643786 0.3775 None gnomAD-3.1.2 6.58E-06
21871 6 S/F 9 rs927643786 0.3775 None gnomAD-4.0.0 1.24266E-06
21871 6 S/T 9 rs776842227 0.3775 None gnomAD-2.1.1 8.16E-06
21871 6 S/T 9 rs776842227 0.3775 None gnomAD-4.0.0 1.02922E-05
21874 9 T/N 14 rs758979983 0.2658 None gnomAD-2.1.1 4.07E-06
21874 9 T/N 14 rs758979983 0.2658 None gnomAD-4.0.0 1.59899E-06
21874 9 T/P 14 None 0.2658 None gnomAD-4.0.0 6.85687E-07
21874 9 T/S 14 rs780643085 0.2658 None gnomAD-2.1.1 1.63E-05
21874 9 T/S 14 rs780643085 0.2658 None gnomAD-4.0.0 4.79981E-06
21877 12 A/S 23 rs72646866 0.1768 None gnomAD-2.1.1 1.01548E-04
21877 12 A/S 23 rs72646866 0.1768 None gnomAD-3.1.2 2.63E-05
21877 12 A/S 23 rs72646866 0.1768 ARVC
Literature None
21877 12 A/S 23 rs72646866 0.1768 None gnomAD-4.0.0 5.70925E-05
21877 12 A/V 23 None 0.1768 None gnomAD-4.0.0 1.59665E-06
21878 13 G/A 24 rs767001973 0.3110 None gnomAD-2.1.1 4.06E-06
21878 13 G/A 24 rs767001973 0.3110 None gnomAD-4.0.0 9.59137E-06
21880 15 N/K 26 None 0.4636 None gnomAD-4.0.0 2.40064E-06
21881 16 V/I 28 rs2048158177 0.1500 None gnomAD-3.1.2 6.58E-06
21881 16 V/I 28 rs2048158177 0.1500 None gnomAD-4.0.0 6.57756E-06
21882 17 C/G 29 rs1440309289 0.3089 None gnomAD-2.1.1 4.05E-06
21882 17 C/G 29 rs1440309289 0.3089 None gnomAD-4.0.0 1.59444E-06
21883 18 L/F 30 rs374736305 0.0980 None gnomAD-2.1.1 9.35E-05
21883 18 L/F 30 rs374736305 0.0980 None gnomAD-3.1.2 3.95E-05
21883 18 L/F 30 rs374736305 0.0980 None gnomAD-4.0.0 7.38114E-05
21883 18 L/V 30 rs754416903 0.0980 None gnomAD-2.1.1 4.05E-06
21883 18 L/V 30 rs754416903 0.0980 None gnomAD-4.0.0 1.36958E-06
21884 19 D/N 31 rs1350675904 0.3609 None gnomAD-2.1.1 4.05E-06
21884 19 D/N 31 rs1350675904 0.3609 None gnomAD-4.0.0 4.78348E-06
21885 20 A/P 33 rs766178095 0.2009 None gnomAD-2.1.1 7.19E-06
21885 20 A/P 33 rs766178095 0.2009 None gnomAD-3.1.2 1.32E-05
21885 20 A/P 33 rs766178095 0.2009 None gnomAD-4.0.0 1.3153E-05
21887 22 V/I 35 None 0.1817 None gnomAD-4.0.0 3.18865E-06
21888 23 F/L 38 rs1230631157 0.6752 None gnomAD-2.1.1 4.05E-06
21888 23 F/L 38 rs1230631157 0.6752 None gnomAD-4.0.0 6.16279E-06
21888 23 F/V 38 None 0.6752 None gnomAD-4.0.0 6.84754E-07
21889 24 G/S 40 None 0.2746 None gnomAD-4.0.0 6.84933E-07
21889 24 G/V 40 rs188110701 0.2746 None gnomAD-2.1.1 4.05E-06
21889 24 G/V 40 rs188110701 0.2746 None gnomAD-3.1.2 6.58E-06
21889 24 G/V 40 rs188110701 0.2746 None 1000 genomes 1.99681E-04
21891 26 P/L 42 rs397517662 0.5452 None gnomAD-2.1.1 5.4E-05
21891 26 P/L 42 rs397517662 0.5452 None gnomAD-3.1.2 8.56E-05
21891 26 P/L 42 rs397517662 0.5452 None gnomAD-4.0.0 5.08679E-05
21891 26 P/Q 42 rs397517662 0.5452 None gnomAD-2.1.1 4.06E-06
21891 26 P/Q 42 rs397517662 0.5452 None gnomAD-4.0.0 1.36979E-06
21891 26 P/S 42 None 0.5452 None gnomAD-4.0.0 6.84839E-07
21891 26 P/T 42 rs1446139113 0.5452 None gnomAD-2.1.1 7.19E-06
21891 26 P/T 42 rs1446139113 0.5452 None gnomAD-3.1.2 6.58E-06
21891 26 P/T 42 rs1446139113 0.5452 None gnomAD-4.0.0 1.36462E-05
21892 27 M/I 43 None 0.2605 None gnomAD-4.0.0 6.84916E-07
21892 27 M/V 43 None 0.2605 None gnomAD-4.0.0 4.784E-06
21893 28 P/T 44 rs1381716551 0.1482 None gnomAD-2.1.1 4.06E-06
21893 28 P/T 44 rs1381716551 0.1482 None gnomAD-4.0.0 1.59517E-06
21894 29 T/A 45 None 0.6551 None gnomAD-4.0.0 1.20032E-06
21894 29 T/I 45 rs761924206 0.6551 None gnomAD-2.1.1 1.22E-05
21894 29 T/I 45 rs761924206 0.6551 None gnomAD-3.1.2 1.32E-05
21894 29 T/I 45 rs761924206 0.6551 None gnomAD-4.0.0 6.8238E-06
21894 29 T/R 45 None 0.6551 None gnomAD-4.0.0 6.84972E-07
21894 29 T/S 45 None 0.6551 None gnomAD-4.0.0 1.20032E-06
21895 30 V/L 46 None 0.3332 None gnomAD-4.0.0 1.59553E-06
21898 33 K/E 49 rs775738687 0.4192 None gnomAD-2.1.1 4.07E-06
21898 33 K/E 49 rs775738687 0.4192 None gnomAD-4.0.0 1.37018E-06
21898 33 K/Q 49 rs775738687 0.4192 None gnomAD-2.1.1 1.22E-05
21898 33 K/Q 49 rs775738687 0.4192 None gnomAD-4.0.0 2.05527E-06
21899 34 K/R 50 None 0.1576 None gnomAD-4.0.0 1.59618E-06
21899 34 K/T 50 None 0.1576 None gnomAD-4.0.0 1.59618E-06
21901 36 G/D 52 None 0.4842 None gnomAD-4.0.0 6.85271E-07
21902 37 T/A 55 None 0.6299 None gnomAD-4.0.0 6.85218E-07
21905 40 K/N 59 rs574615636 0.8123 None gnomAD-2.1.1 1.64E-05
21905 40 K/N 59 rs574615636 0.8123 None gnomAD-3.1.2 6.58E-06
21905 40 K/N 59 rs574615636 0.8123 None 1000 genomes 1.99681E-04
21905 40 K/N 59 rs574615636 0.8123 None gnomAD-4.0.0 5.58497E-06
21905 40 K/Q 59 None 0.8123 None gnomAD-4.0.0 1.59674E-06
21906 41 P/R 70 rs1193931137 0.7094 None gnomAD-4.0.0 6.85319E-07
21908 43 E/G 109 None 1.1270 None gnomAD-4.0.0 1.59688E-06
21908 43 E/K 109 rs2154178693 1.1270 None gnomAD-4.0.0 4.79077E-06
21909 44 G/C 115 rs878898044 0.2413 None gnomAD-2.1.1 3.19E-05
21909 44 G/C 115 rs878898044 0.2413 None gnomAD-3.1.2 6.58E-06
21909 44 G/C 115 rs878898044 0.2413 None gnomAD-4.0.0 1.86184E-06
21910 45 I/L 121 rs749668988 0.2585 None gnomAD-4.0.0 1.20032E-06
21910 45 I/R 121 None 0.2585 None gnomAD-4.0.0 6.85237E-07
21910 45 I/T 121 rs146941600 0.2585 None gnomAD-2.1.1 1.91954E-04
21910 45 I/T 121 rs146941600 0.2585 None gnomAD-3.1.2 2.82872E-04
21910 45 I/T 121 rs146941600 0.2585 None 1000 genomes 3.99361E-04
21910 45 I/T 121 rs146941600 0.2585 None gnomAD-4.0.0 1.50173E-04
21910 45 I/V 121 rs749668988 0.2585 None gnomAD-2.1.1 4.09E-06
21911 46 K/E 122 rs372565084 0.3944 None gnomAD-2.1.1 2.9E-05
21911 46 K/E 122 rs372565084 0.3944 None gnomAD-3.1.2 9.2E-05
21911 46 K/E 122 rs372565084 0.3944 None gnomAD-4.0.0 1.6135E-05
21911 46 K/N 122 rs1226949981 0.3944 None gnomAD-4.0.0 1.11798E-05
21912 47 M/L 123 rs1277465530 0.2905 None gnomAD-2.1.1 3.19E-05
21912 47 M/L 123 rs1277465530 0.2905 None gnomAD-3.1.2 6.57E-06
21912 47 M/L 123 rs1277465530 0.2905 None gnomAD-4.0.0 6.57454E-06
21913 48 A/S 125 None 0.3658 None gnomAD-4.0.0 1.37071E-06
21913 48 A/V 125 rs751046277 0.3658 None gnomAD-3.1.2 6.58E-06
21914 49 M/K 127 None 0.4013 None gnomAD-4.0.0 6.85214E-07
21914 49 M/T 127 None 0.4013 None gnomAD-4.0.0 6.85214E-07
21914 49 M/V 127 rs2048136288 0.4013 None gnomAD-3.1.2 6.58E-06
21914 49 M/V 127 rs2048136288 0.4013 None gnomAD-4.0.0 6.5754E-06
21915 50 Q/K 130 rs62618736 0.8547 None gnomAD-2.1.1 4.62407E-03
21915 50 Q/K 130 rs62618736 0.8547 None gnomAD-3.1.2 1.38779E-02
21915 50 Q/K 130 rs62618736 0.8547 None 1000 genomes 1.59744E-02
21915 50 Q/K 130 rs62618736 0.8547 None gnomAD-4.0.0 2.70174E-03
21915 50 Q/R 130 rs758259657 0.8547 None gnomAD-2.1.1 4.08E-06
21915 50 Q/R 130 rs758259657 0.8547 None gnomAD-3.1.2 6.58E-06
21915 50 Q/R 130 rs758259657 0.8547 None gnomAD-4.0.0 2.56974E-06
21916 51 R/Q 131 rs148849567 0.8889 None gnomAD-2.1.1 4.41396E-04
21916 51 R/Q 131 rs148849567 0.8889 None gnomAD-3.1.2 1.25643E-03
21916 51 R/Q 131 rs148849567 0.8889 None 1000 genomes 7.98722E-04
21916 51 R/Q 131 rs148849567 0.8889 None gnomAD-4.0.0 2.58207E-04
21916 51 R/W 131 rs200155485 0.8889 None gnomAD-2.1.1 1.14311E-04
21916 51 R/W 131 rs200155485 0.8889 None gnomAD-3.1.2 9.87E-05
21916 51 R/W 131 rs200155485 0.8889 None gnomAD-4.0.0 6.82838E-05
21919 54 C/Y 136 rs1403325884 0.1134 None gnomAD-2.1.1 4.07E-06
21920 55 T/I 137 None 0.2319 None gnomAD-4.0.0 1.59705E-06
21921 56 L/S 138 None 0.0735 None gnomAD-4.0.0 1.20032E-06
21925 60 S/R 143 rs72646867 0.5177 None gnomAD-2.1.1 4.07E-06
21925 60 S/R 143 rs72646867 0.5177 None gnomAD-4.0.0 6.86384E-07
21926 61 V/M 144 rs145527033 0.0992 None gnomAD-2.1.1 3.85833E-04
21926 61 V/M 144 rs145527033 0.0992 None gnomAD-3.1.2 7.95634E-04
21926 61 V/M 144 rs145527033 0.0992 None 1000 genomes 7.98722E-04
21926 61 V/M 144 rs145527033 0.0992 None gnomAD-4.0.0 1.8141E-04
21928 63 R/Q 146 rs769057462 0.4011 None gnomAD-2.1.1 1.63E-05
21928 63 R/Q 146 rs769057462 0.4011 None gnomAD-3.1.2 3.29E-05
21928 63 R/Q 146 rs769057462 0.4011 None gnomAD-4.0.0 2.30393E-05
21928 63 R/W 146 rs371856109 0.4011 None gnomAD-2.1.1 5.78E-05
21928 63 R/W 146 rs371856109 0.4011 None gnomAD-3.1.2 3.95E-05
21928 63 R/W 146 rs371856109 0.4011 None gnomAD-4.0.0 6.7836E-05
21929 64 K/R 148 rs1465791266 0.8317 None gnomAD-2.1.1 4.07E-06
21929 64 K/R 148 rs1465791266 0.8317 None gnomAD-3.1.2 1.32E-05
21929 64 K/R 148 rs1465791266 0.8317 None gnomAD-4.0.0 5.17072E-06
21930 65 D/E 149 rs794727432 0.2348 None gnomAD-2.1.1 1.22E-05
21930 65 D/E 149 rs794727432 0.2348 None gnomAD-3.1.2 6.58E-06
21930 65 D/E 149 rs794727432 0.2348 None gnomAD-4.0.0 1.80611E-05
21930 65 D/N 149 None 0.2348 None gnomAD-4.0.0 1.37605E-06
21932 67 G/R 152 rs373636513 0.1777 None gnomAD-2.1.1 5.3E-05
21932 67 G/R 152 rs373636513 0.1777 None gnomAD-3.1.2 2.63E-05
21932 67 G/R 152 rs373636513 0.1777 None gnomAD-4.0.0 2.11938E-05
21933 68 D/H 153 rs1453626597 0.3912 None gnomAD-4.0.0 1.62746E-06
21933 68 D/N 153 rs1453626597 0.3912 None gnomAD-2.1.1 4.1E-06
21933 68 D/N 153 rs1453626597 0.3912 None gnomAD-4.0.0 1.62746E-06
21934 69 Y/C 154 None 0.1170 None gnomAD-4.0.0 7.20203E-06
21934 69 Y/D 154 rs786205385 0.1170 None gnomAD-4.0.0 3.28938E-06
21934 69 Y/H 154 None 0.1170 None gnomAD-4.0.0 3.28938E-06
21935 70 T/A 155 rs1340276785 0.2165 None gnomAD-2.1.1 4.14E-06
21935 70 T/A 155 rs1340276785 0.2165 None gnomAD-4.0.0 1.65038E-06
21935 70 T/I 155 rs571121441 0.2165 None gnomAD-2.1.1 8.3E-06
21935 70 T/I 155 rs571121441 0.2165 None gnomAD-3.1.2 1.97E-05
21935 70 T/I 155 rs571121441 0.2165 None 1000 genomes 1.99681E-04
21935 70 T/I 155 rs571121441 0.2165 None gnomAD-4.0.0 1.13241E-05
21935 70 T/N 155 rs571121441 0.2165 None gnomAD-3.1.2 6.58E-06
21935 70 T/N 155 rs571121441 0.2165 None gnomAD-4.0.0 1.25833E-06
21936 71 I/V 156 None 0.1188 None gnomAD-4.0.0 1.70071E-06
21937 72 T/A 157 rs969062428 0.2848 None gnomAD-4.0.0 1.70846E-06
21938 73 A/V 158 rs1229229420 0.1755 None gnomAD-2.1.1 4.38E-06
21938 73 A/V 158 rs1229229420 0.1755 None gnomAD-4.0.0 3.55859E-06
21939 74 E/K 159 None 0.5523 None gnomAD-4.0.0 7.12946E-07
21939 74 E/Q 159 None 0.5523 None gnomAD-4.0.0 7.12946E-07
21940 75 N/S 161 rs762866554 0.1973 None gnomAD-2.1.1 4.43E-06
21940 75 N/S 161 rs762866554 0.1973 None gnomAD-3.1.2 6.57E-06
21940 75 N/S 161 rs762866554 0.1973 None gnomAD-4.0.0 1.73652E-05
21941 76 S/L 162 None 0.6934 None gnomAD-4.0.0 7.13798E-07
21942 77 S/G 163 None 0.7454 None gnomAD-4.0.0 1.42604E-06
21942 77 S/N 163 rs1274120348 0.7454 None gnomAD-2.1.1 4.44E-06
21942 77 S/N 163 rs1274120348 0.7454 None gnomAD-3.1.2 1.32E-05
21942 77 S/N 163 rs1274120348 0.7454 None gnomAD-4.0.0 2.57514E-06
21943 78 G/D 164 None 0.3785 None gnomAD-4.0.0 7.15228E-07
21944 79 S/C 165 None 0.4559 None gnomAD-4.0.0 1.76804E-06
21944 79 S/Y 165 None 0.4559 None gnomAD-4.0.0 1.76804E-06
21946 81 S/P 168 None 0.4906 None gnomAD-4.0.0 1.76504E-06
21947 82 A/P 169 rs1434065340 0.4552 None gnomAD-4.0.0 1.82037E-06
21947 82 A/V 169 rs2154178631 0.4552 None gnomAD-3.1.2 6.58E-06
21948 83 T/A 171 None 0.3855 None gnomAD-4.0.0 7.21209E-07
21948 83 T/S 171 None 0.3855 None gnomAD-4.0.0 7.21209E-07
21949 84 I/V 172 rs779413774 0.1301 None gnomAD-2.1.1 4.72E-06
21949 84 I/V 172 rs779413774 0.1301 None gnomAD-4.0.0 3.61153E-06
21950 85 K/R 173 None 0.4742 None gnomAD-4.0.0 1.81447E-06
21951 86 L/F 174 rs2048118733 0.1076 None gnomAD-4.0.0 1.20037E-06
21952 87 K/E 175 rs2048118319 0.4201 None gnomAD-4.0.0 5.55821E-06
21952 87 K/I 175 rs371740766 0.4201 None gnomAD-4.0.0 1.45816E-06
21952 87 K/R 175 None 0.4201 None gnomAD-4.0.0 7.29079E-07
21953 88 V/L 177 None 0.0881 None gnomAD-4.0.0 1.86225E-06