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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
24813 6 T/A 6 rs750126076 0.4049 None gnomAD-2.1.1 4.04E-06
24813 6 T/A 6 rs750126076 0.4049 None gnomAD-4.0.0 3.42161E-06
24813 6 T/I 6 None 0.4049 None gnomAD-4.0.0 1.20032E-06
24813 6 T/N 6 rs1559405404 0.4049 None gnomAD-4.0.0 1.20032E-06
24813 6 T/P 6 rs750126076 0.4049 None gnomAD-2.1.1 8.07E-06
24813 6 T/P 6 rs750126076 0.4049 None gnomAD-3.1.2 6.58E-06
24813 6 T/P 6 rs750126076 0.4049 None gnomAD-4.0.0 9.91699E-06
24814 7 G/R 7 rs1227523189 0.4812 None gnomAD-3.1.2 6.58E-06
24814 7 G/R 7 rs1227523189 0.4812 None gnomAD-4.0.0 6.57808E-06
24815 8 P/L 8 rs1348642526 0.7812 None gnomAD-2.1.1 4.04E-06
24815 8 P/L 8 rs1348642526 0.7812 None gnomAD-4.0.0 3.18383E-06
24815 8 P/S 8 None 0.7812 None gnomAD-4.0.0 1.20032E-06
24816 9 V/I 9 rs1304130047 0.1834 None gnomAD-2.1.1 4.04E-06
24816 9 V/I 9 rs1304130047 0.1834 None gnomAD-4.0.0 1.5919E-06
24817 10 K/R 11 rs565309903 0.6583 None gnomAD-2.1.1 4.04E-06
24817 10 K/R 11 rs565309903 0.6583 None gnomAD-3.1.2 6.57E-06
24817 10 K/R 11 rs565309903 0.6583 None 1000 genomes 1.99681E-04
24817 10 K/R 11 rs565309903 0.6583 None gnomAD-4.0.0 2.02974E-06
24818 11 M/V 12 None 0.2548 None gnomAD-4.0.0 2.05298E-06
24820 13 E/Q 14 None 0.5960 None gnomAD-4.0.0 1.20032E-06
24821 14 V/A 15 rs1250205827 0.2335 None gnomAD-3.1.2 6.58E-06
24821 14 V/A 15 rs1250205827 0.2335 None gnomAD-4.0.0 6.57583E-06
24822 15 T/R 16 rs1479629836 0.1089 None gnomAD-4.0.0 4.7761E-06
24823 16 A/G 17 rs368071644 0.1442 None gnomAD-2.1.1 8.08E-06
24823 16 A/G 17 rs368071644 0.1442 None gnomAD-4.0.0 4.79045E-06
24823 16 A/T 17 None 0.1442 None gnomAD-4.0.0 3.60097E-06
24823 16 A/V 17 rs368071644 0.1442 None gnomAD-2.1.1 4.04E-06
24823 16 A/V 17 rs368071644 0.1442 None gnomAD-4.0.0 2.05305E-06
24824 17 D/Y 18 None 0.4312 None gnomAD-4.0.0 1.20032E-06
24825 18 S/I 19 rs753816472 0.0880 None gnomAD-2.1.1 3.23E-05
24825 18 S/I 19 rs753816472 0.0880 None gnomAD-4.0.0 2.73748E-06
24825 18 S/N 19 rs753816472 0.0880 None gnomAD-2.1.1 3.19E-05
24825 18 S/N 19 rs753816472 0.0880 None gnomAD-3.1.2 6.58E-06
24825 18 S/N 19 rs753816472 0.0880 None gnomAD-4.0.0 8.67795E-06
24825 18 S/T 19 None 0.0880 None gnomAD-4.0.0 2.73748E-06
24826 19 I/N 20 rs764053971 0.0733 None gnomAD-2.1.1 4.04E-06
24826 19 I/N 20 rs764053971 0.0733 None gnomAD-4.0.0 1.59208E-06
24828 21 L/F 22 rs375181431 0.0727 None gnomAD-2.1.1 4.04E-06
24828 21 L/V 22 rs375181431 0.0727 None gnomAD-2.1.1 4.04E-06
24828 21 L/V 22 rs375181431 0.0727 None gnomAD-3.1.2 6.58E-06
24828 21 L/V 22 rs375181431 0.0727 None gnomAD-4.0.0 2.5636E-06
24830 23 W/C 24 None 0.1107 None gnomAD-4.0.0 1.20032E-06
24831 24 G/S 25 rs1708234650 0.2000 None gnomAD-4.0.0 7.96128E-06
24832 25 P/S 26 None 0.4902 None gnomAD-4.0.0 1.20032E-06
24833 26 P/R 27 None 0.1479 None gnomAD-4.0.0 1.3688E-06
24833 26 P/S 27 rs1251877606 0.1479 None gnomAD-4.0.0 6.36918E-06
24834 27 K/R 28 None 1.0158 None gnomAD-4.0.0 8.40225E-06
24835 28 Y/C 29 rs201724962 0.3186 None gnomAD-2.1.1 6.87E-05
24835 28 Y/C 29 rs201724962 0.3186 None gnomAD-3.1.2 5.92E-05
24835 28 Y/C 29 rs201724962 0.3186 None gnomAD-4.0.0 3.84324E-05
24836 29 D/Y 30 rs759645630 0.2659 None gnomAD-2.1.1 4.04E-06
24836 29 D/Y 30 rs759645630 0.2659 None gnomAD-4.0.0 1.59234E-06
24837 30 G/D 31 rs1178195707 0.0558 None gnomAD-2.1.1 7.18E-06
24837 30 G/D 31 rs1178195707 0.0558 None gnomAD-3.1.2 6.58E-06
24837 30 G/D 31 rs1178195707 0.0558 None gnomAD-4.0.0 2.47962E-06
24838 31 G/A 32 rs200723435 0.1993 None gnomAD-2.1.1 8.09E-06
24838 31 G/A 32 rs200723435 0.1993 None gnomAD-3.1.2 3.29E-05
24838 31 G/A 32 rs200723435 0.1993 None gnomAD-4.0.0 3.2855E-05
24838 31 G/R 32 None 0.1993 None gnomAD-4.0.0 1.59241E-06
24839 32 S/G 33 rs770901672 0.1651 None gnomAD-2.1.1 4.04E-06
24839 32 S/G 33 rs770901672 0.1651 None gnomAD-3.1.2 1.31E-05
24839 32 S/G 33 rs770901672 0.1651 None gnomAD-4.0.0 1.31482E-05
24839 32 S/N 33 rs763157776 0.1651 None gnomAD-2.1.1 1.21E-05
24839 32 S/N 33 rs763157776 0.1651 None gnomAD-4.0.0 3.42212E-06
24839 32 S/R 33 rs1301601226 0.1651 None gnomAD-3.1.2 6.58E-06
24839 32 S/R 33 rs1301601226 0.1651 None gnomAD-4.0.0 1.36382E-05
24839 32 S/T 33 rs763157776 0.1651 None gnomAD-2.1.1 3.19E-05
24839 32 S/T 33 rs763157776 0.1651 None gnomAD-3.1.2 6.58E-06
24839 32 S/T 33 rs763157776 0.1651 None gnomAD-4.0.0 3.71941E-06
24840 33 S/P 34 None 0.7062 None gnomAD-4.0.0 1.59247E-06
24841 34 I/T 35 rs1382387828 0.1474 None gnomAD-4.0.0 1.20032E-06
24842 35 N/D 36 rs1708221113 0.3982 None gnomAD-3.1.2 6.57E-06
24842 35 N/D 36 rs1708221113 0.3982 None gnomAD-4.0.0 2.56389E-06
24843 36 N/D 37 rs373527654 0.1349 None gnomAD-2.1.1 6.1E-05
24843 36 N/D 37 rs373527654 0.1349 None gnomAD-3.1.2 1.97E-05
24843 36 N/D 37 rs373527654 0.1349 None gnomAD-4.0.0 2.29351E-05
24845 38 I/L 39 rs1214451388 0.1768 None gnomAD-2.1.1 2.02E-05
24845 38 I/L 39 rs1214451388 0.1768 None gnomAD-4.0.0 1.50576E-05
24846 39 V/A 40 rs545418788 0.0713 None gnomAD-2.1.1 1.21E-05
24846 39 V/A 40 rs545418788 0.0713 None gnomAD-3.1.2 6.58E-06
24846 39 V/A 40 rs545418788 0.0713 None 1000 genomes 1.99681E-04
24846 39 V/A 40 rs545418788 0.0713 None gnomAD-4.0.0 3.84539E-06
24846 39 V/I 40 rs770230639 0.0713 None gnomAD-2.1.1 4.05E-06
24846 39 V/I 40 rs770230639 0.0713 None gnomAD-4.0.0 5.47558E-06
24847 40 E/K 41 None 0.1017 None gnomAD-4.0.0 1.59262E-06
24848 41 K/Q 42 None 0.1424 None gnomAD-4.0.0 1.59248E-06
24848 41 K/T 42 None 0.1424 None gnomAD-4.0.0 1.20032E-06
24849 42 R/L 43 None 0.2036 None gnomAD-4.0.0 6.84466E-07
24849 42 R/Q 43 rs745488276 0.2036 None gnomAD-2.1.1 2.83E-05
24849 42 R/Q 43 rs745488276 0.2036 None gnomAD-4.0.0 9.5825E-06
24849 42 R/W 43 rs727503562 0.2036 None gnomAD-2.1.1 2.51E-05
24849 42 R/W 43 rs727503562 0.2036 None gnomAD-3.1.2 4.6E-05
24849 42 R/W 43 rs727503562 0.2036 None gnomAD-4.0.0 9.29914E-06
24850 43 D/G 44 rs573415766 0.2581 None gnomAD-2.1.1 2.87354E-04
24850 43 D/G 44 rs573415766 0.2581 None gnomAD-3.1.2 1.70938E-04
24850 43 D/G 44 rs573415766 0.2581 None 1000 genomes 1.39776E-03
24850 43 D/G 44 rs573415766 0.2581 None gnomAD-4.0.0 1.8906E-04
24851 44 T/I 50 rs756862019 0.3098 None gnomAD-2.1.1 1.21E-05
24851 44 T/I 50 rs756862019 0.3098 None gnomAD-3.1.2 6.58E-06
24851 44 T/I 50 rs756862019 0.3098 None gnomAD-4.0.0 8.05886E-06
24851 44 T/N 50 None 0.3098 None gnomAD-4.0.0 2.05332E-06
24852 45 S/A 54 None 0.5643 None gnomAD-4.0.0 1.20032E-06
24852 45 S/Y 54 rs375466935 0.5643 None gnomAD-2.1.1 6.37E-05
24852 45 S/Y 54 rs375466935 0.5643 None gnomAD-3.1.2 1.32E-05
24852 45 S/Y 54 rs375466935 0.5643 None gnomAD-4.0.0 3.8464E-06
24853 46 T/S 60 rs756071728 0.3340 None gnomAD-2.1.1 4.05E-06
24853 46 T/S 60 rs756071728 0.3340 None gnomAD-4.0.0 3.18492E-06
24855 48 T/I 64 rs759432194 0.6261 None gnomAD-2.1.1 1.11296E-04
24855 48 T/I 64 rs759432194 0.6261 None gnomAD-3.1.2 1.97E-05
24855 48 T/I 64 rs759432194 0.6261 None gnomAD-4.0.0 4.2775E-05
24855 48 T/S 64 None 0.6261 None gnomAD-4.0.0 1.59247E-06
24856 49 W/R 65 None 0.2467 None gnomAD-4.0.0 1.20032E-06
24857 50 Q/K 66 rs766557412 0.5984 None gnomAD-2.1.1 1.62E-05
24857 50 Q/K 66 rs766557412 0.5984 None gnomAD-4.0.0 6.15993E-06
24857 50 Q/L 66 None 0.5984 None gnomAD-4.0.0 6.8443E-07
24857 50 Q/R 66 rs763178333 0.5984 None gnomAD-2.1.1 8.09E-06
24857 50 Q/R 66 rs763178333 0.5984 None gnomAD-4.0.0 1.36886E-06
24858 51 I/T 67 rs1708197097 0.5718 None gnomAD-4.0.0 2.7377E-06
24858 51 I/V 67 rs1191685615 0.5718 None gnomAD-2.1.1 4.05E-06
24858 51 I/V 67 rs1191685615 0.5718 None gnomAD-4.0.0 3.18487E-06
24859 52 V/L 68 rs773227508 0.2267 None gnomAD-2.1.1 4.05E-06
24859 52 V/L 68 rs773227508 0.2267 None gnomAD-4.0.0 6.37002E-06
24861 54 A/P 70 rs879142245 0.2958 None gnomAD-2.1.1 3.19E-05
24861 54 A/P 70 rs879142245 0.2958 None gnomAD-3.1.2 6.58E-06
24861 54 A/P 70 rs879142245 0.2958 None gnomAD-4.0.0 7.43891E-06
24861 54 A/V 70 rs149232991 0.2958 None gnomAD-2.1.1 2.02E-05
24861 54 A/V 70 rs149232991 0.2958 None gnomAD-3.1.2 5.26E-05
24861 54 A/V 70 rs149232991 0.2958 None 1000 genomes 3.99361E-04
24861 54 A/V 70 rs149232991 0.2958 None gnomAD-4.0.0 1.23975E-05
24863 56 V/A 77 None 0.0915 None gnomAD-4.0.0 7.96224E-06
24864 57 A/G 83 None 0.5429 None gnomAD-4.0.0 1.5924E-06
24864 57 A/T 83 rs1216441388 0.5429 None gnomAD-2.1.1 4.05E-06
24864 57 A/T 83 rs1216441388 0.5429 None gnomAD-4.0.0 1.59248E-06
24865 58 R/K 88 None 0.7304 None gnomAD-4.0.0 1.59248E-06
24865 58 R/S 88 rs1261180608 0.7304 None gnomAD-3.1.2 6.58E-06
24865 58 R/S 88 rs1261180608 0.7304 None gnomAD-4.0.0 2.56425E-06
24866 59 T/A 89 rs199784966 0.1775 None gnomAD-2.1.1 2.04577E-04
24866 59 T/A 89 rs199784966 0.1775 None gnomAD-3.1.2 5.85126E-04
24866 59 T/A 89 rs199784966 0.1775 None 1000 genomes 1.99681E-04
24866 59 T/A 89 rs199784966 0.1775 None gnomAD-4.0.0 1.10953E-04
24866 59 T/K 89 None 0.1775 None gnomAD-4.0.0 2.05348E-06
24866 59 T/R 89 rs940915212 0.1775 None gnomAD-3.1.2 5.26E-05
24866 59 T/R 89 rs940915212 0.1775 None gnomAD-4.0.0 7.43989E-06
24867 60 T/R 90 None 0.2840 None gnomAD-4.0.0 1.203E-06
24868 61 I/K 91 None 0.1315 None gnomAD-4.0.0 1.36884E-06
24868 61 I/L 91 None 0.1315 None gnomAD-4.0.0 6.86029E-07
24868 61 I/R 91 None 0.1315 None gnomAD-4.0.0 6.84422E-07
24868 61 I/V 91 rs72646898 0.1315 None gnomAD-2.1.1 2.36829E-04
24868 61 I/V 91 rs72646898 0.1315 None gnomAD-3.1.2 2.76669E-04
24868 61 I/V 91 rs72646898 0.1315 None 1000 genomes 3.99361E-04
24868 61 I/V 91 rs72646898 0.1315 None gnomAD-4.0.0 4.65958E-04
24869 62 K/N 92 rs1708181075 0.3987 None gnomAD-3.1.2 6.58E-06
24869 62 K/N 92 rs1708181075 0.3987 None gnomAD-4.0.0 6.5767E-06
24870 63 A/P 93 rs768892376 0.0898 None gnomAD-2.1.1 4.04E-06
24870 63 A/P 93 rs768892376 0.0898 None gnomAD-3.1.2 6.58E-06
24870 63 A/P 93 rs768892376 0.0898 None gnomAD-4.0.0 3.71949E-06
24870 63 A/S 93 rs768892376 0.0898 None gnomAD-2.1.1 4.04E-06
24870 63 A/S 93 rs768892376 0.0898 None gnomAD-3.1.2 1.32E-05
24870 63 A/S 93 rs768892376 0.0898 None gnomAD-4.0.0 3.71949E-06
24870 63 A/V 93 None 0.0898 None gnomAD-4.0.0 1.59239E-06
24871 64 C/G 94 rs1277175098 0.3147 None gnomAD-2.1.1 4.04E-06
24871 64 C/G 94 rs1277175098 0.3147 None gnomAD-4.0.0 1.59239E-06
24872 65 R/K 96 rs923165795 0.7901 None gnomAD-2.1.1 7.17E-06
24872 65 R/K 96 rs923165795 0.7901 None gnomAD-3.1.2 1.32E-05
24872 65 R/K 96 rs923165795 0.7901 None gnomAD-4.0.0 5.1278E-06
24873 66 L/M 97 None 0.0964 None gnomAD-4.0.0 1.20032E-06
24875 68 T/A 99 rs770565202 0.5598 None gnomAD-2.1.1 1.21E-05
24875 68 T/A 99 rs770565202 0.5598 None gnomAD-4.0.0 7.96194E-06
24875 68 T/S 99 rs536979672 0.5598 None gnomAD-2.1.1 8.08E-06
24875 68 T/S 99 rs536979672 0.5598 None gnomAD-3.1.2 6.58E-06
24875 68 T/S 99 rs536979672 0.5598 None 1000 genomes 1.99681E-04
24875 68 T/S 99 rs536979672 0.5598 None gnomAD-4.0.0 2.56352E-06
24876 69 G/A 100 None 0.4128 None gnomAD-4.0.0 6.84417E-07
24876 69 G/E 100 None 0.4128 None gnomAD-4.0.0 1.36883E-06
24876 69 G/R 100 None 0.4128 None gnomAD-4.0.0 6.84421E-07
24876 69 G/V 100 rs1348577140 0.4128 None gnomAD-2.1.1 4.04E-06
24876 69 G/V 100 rs1348577140 0.4128 None gnomAD-4.0.0 2.73767E-06
24877 70 C/R 102 None 0.2076 None gnomAD-4.0.0 3.60097E-06
24877 70 C/Y 102 rs373130280 0.2076 None gnomAD-2.1.1 4.04E-06
24877 70 C/Y 102 rs373130280 0.2076 None gnomAD-4.0.0 3.28519E-05
24879 72 Y/C 104 rs933323916 0.1078 None gnomAD-3.1.2 6.57E-06
24879 72 Y/C 104 rs933323916 0.1078 None gnomAD-4.0.0 2.56375E-06
24880 73 Q/H 105 rs755733728 0.2097 None gnomAD-2.1.1 1.21E-05
24880 73 Q/H 105 rs755733728 0.2097 None gnomAD-3.1.2 6.58E-06
24880 73 Q/H 105 rs755733728 0.2097 None gnomAD-4.0.0 6.81882E-06
24880 73 Q/P 105 None 0.2097 None gnomAD-4.0.0 3.60097E-06
24882 75 R/G 107 rs1381964722 0.1115 None gnomAD-4.0.0 3.422E-06
24883 76 I/T 108 rs1191756557 0.0498 None gnomAD-2.1.1 4.04E-06
24883 76 I/T 108 rs1191756557 0.0498 None gnomAD-4.0.0 2.05317E-06
24885 78 A/T 110 rs748083856 0.0644 None gnomAD-2.1.1 4.04E-06
24885 78 A/T 110 rs748083856 0.0644 None gnomAD-3.1.2 6.58E-06
24885 78 A/T 110 rs748083856 0.0644 None gnomAD-4.0.0 5.12731E-06
24886 79 E/K 111 rs1239424185 0.2405 None gnomAD-4.0.0 1.36875E-06
24886 79 E/Q 111 None 0.2405 None gnomAD-4.0.0 1.36875E-06
24887 80 N/S 112 None 0.0758 None gnomAD-4.0.0 1.59212E-06
24888 81 R/S 113 rs1286127438 0.5608 None gnomAD-3.1.2 6.58E-06
24888 81 R/S 113 rs1286127438 0.5608 None gnomAD-4.0.0 6.57661E-06
24888 81 R/T 113 rs1708151139 0.5608 None gnomAD-3.1.2 6.58E-06
24888 81 R/T 113 rs1708151139 0.5608 None gnomAD-4.0.0 5.57881E-06
24889 82 Y/C 114 rs368931248 0.2762 None gnomAD-2.1.1 4.03E-06
24890 83 G/R 115 None 0.1858 None gnomAD-4.0.0 2.40064E-06
24892 85 S/R 118 None 0.1015 None gnomAD-4.0.0 6.84352E-07
24892 85 S/T 118 rs1190621446 0.1015 None gnomAD-2.1.1 4.03E-06
24892 85 S/T 118 rs1190621446 0.1015 None gnomAD-4.0.0 3.18406E-06
24894 87 Y/H 120 None 0.3281 None gnomAD-4.0.0 3.18406E-06
24896 89 N/S 122 None 0.5285 None gnomAD-4.0.0 3.42164E-06
24896 89 N/T 122 rs1708142554 0.5285 None gnomAD-4.0.0 2.73731E-06
24898 91 E/D 124 None 0.6747 None gnomAD-4.0.0 6.84332E-07
24898 91 E/K 124 rs751312481 0.6747 None gnomAD-3.1.2 3.29E-05
24898 91 E/K 124 rs751312481 0.6747 None gnomAD-4.0.0 7.69022E-06
24898 91 E/Q 124 rs751312481 0.6747 None gnomAD-2.1.1 4.03E-06
24898 91 E/Q 124 rs751312481 0.6747 None gnomAD-4.0.0 3.18381E-06
24899 92 P/L 126 rs1708138833 0.3685 None gnomAD-3.1.2 6.58E-06
24899 92 P/L 126 rs1708138833 0.3685 None gnomAD-4.0.0 2.56338E-06
24899 92 P/T 126 rs1335200909 0.3685 None gnomAD-2.1.1 4.03E-06
24899 92 P/T 126 rs1335200909 0.3685 None gnomAD-4.0.0 4.77579E-06
24900 93 T/A 127 None 0.2649 None gnomAD-4.0.0 1.59189E-06
24901 94 V/I 128 rs766110889 0.3363 None gnomAD-2.1.1 1.08774E-04
24901 94 V/I 128 rs766110889 0.3363 None gnomAD-3.1.2 6.58E-06
24901 94 V/I 128 rs766110889 0.3363 None gnomAD-4.0.0 4.09089E-05
24902 95 A/V 130 None 0.0679 None gnomAD-4.0.0 2.40064E-06
24904 97 Y/C 132 None 0.5592 None gnomAD-4.0.0 2.40064E-06