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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
5824 2 T/A 2 rs750512727 0.5175 None gnomAD-2.1.1 4.02E-06
5824 2 T/A 2 rs750512727 0.5175 None gnomAD-4.0.0 2.0537E-06
5825 3 I/V 3 rs778914141 0.1262 None gnomAD-2.1.1 2.01E-05
5825 3 I/V 3 rs778914141 0.1262 None gnomAD-4.0.0 1.11509E-05
5826 4 T/I 4 None 0.3832 None gnomAD-4.0.0 1.5927E-06
5827 5 E/K 5 rs753975878 0.3564 None gnomAD-2.1.1 4.02E-05
5827 5 E/K 5 rs753975878 0.3564 None gnomAD-3.1.2 1.97E-05
5827 5 E/K 5 rs753975878 0.3564 None gnomAD-4.0.0 1.67386E-05
5828 6 E/K 7 rs2080414407 0.5333 None gnomAD-4.0.0 1.59254E-06
5829 7 A/T 8 None 0.1639 None gnomAD-4.0.0 4.80129E-06
5829 7 A/V 8 None 0.1639 None gnomAD-4.0.0 1.20032E-06
5830 8 V/L 9 None 0.7757 None gnomAD-4.0.0 6.84391E-07
5830 8 V/M 9 rs374097424 0.7757 None gnomAD-2.1.1 2.86E-05
5830 8 V/M 9 rs374097424 0.7757 None gnomAD-3.1.2 3.94E-05
5830 8 V/M 9 rs374097424 0.7757 None gnomAD-4.0.0 7.43837E-06
5831 9 S/Y 11 rs760944340 0.3896 None gnomAD-2.1.1 4.02E-06
5831 9 S/Y 11 rs760944340 0.3896 None gnomAD-4.0.0 1.36868E-06
5832 10 I/T 13 rs1222549953 0.2777 None gnomAD-2.1.1 1.21E-05
5832 10 I/T 13 rs1222549953 0.2777 None gnomAD-4.0.0 2.73726E-06
5833 11 D/G 14 rs1340894070 0.6633 None gnomAD-2.1.1 8.04E-06
5833 11 D/G 14 rs1340894070 0.6633 None gnomAD-3.1.2 8.55E-05
5833 11 D/G 14 rs1340894070 0.6633 None gnomAD-4.0.0 1.92212E-05
5834 12 V/A 16 None 0.1616 None gnomAD-4.0.0 1.59165E-06
5834 12 V/I 16 rs727505221 0.1616 None gnomAD-2.1.1 2.41E-05
5834 12 V/I 16 rs727505221 0.1616 None gnomAD-3.1.2 1.31E-05
5834 12 V/I 16 rs727505221 0.1616 None gnomAD-4.0.0 4.95821E-05
5836 14 Q/L 23 None 0.6592 None gnomAD-4.0.0 1.59151E-06
5836 14 Q/R 23 rs760072345 0.6592 None gnomAD-2.1.1 4.02E-06
5836 14 Q/R 23 rs760072345 0.6592 None gnomAD-4.0.0 3.18301E-06
5837 15 G/R 24 None 0.2793 None gnomAD-4.0.0 2.40064E-06
5838 16 D/A 25 rs772883729 0.4600 None gnomAD-4.0.0 1.59154E-06
5838 16 D/E 25 None 0.4600 None gnomAD-4.0.0 1.20032E-06
5839 17 P/L 26 None 0.4345 None gnomAD-4.0.0 1.59154E-06
5839 17 P/S 26 None 0.4345 None gnomAD-4.0.0 1.20032E-06
5840 18 A/D 28 rs769399979 0.1438 None gnomAD-2.1.1 3.62E-05
5840 18 A/D 28 rs769399979 0.1438 None gnomAD-3.1.2 6.58E-06
5840 18 A/D 28 rs769399979 0.1438 None gnomAD-4.0.0 6.19761E-06
5841 19 T/A 29 rs1347598272 0.3637 None gnomAD-2.1.1 1.21E-05
5841 19 T/A 29 rs1347598272 0.3637 None gnomAD-4.0.0 6.36576E-06
5841 19 T/I 29 None 0.3637 None gnomAD-4.0.0 3.60097E-06
5841 19 T/S 29 rs1347598272 0.3637 None gnomAD-3.1.2 6.57E-06
5841 19 T/S 29 rs1347598272 0.3637 None gnomAD-4.0.0 6.57281E-06
5843 21 Q/H 31 rs2080404318 0.3923 None gnomAD-4.0.0 1.20032E-06
5843 21 Q/K 31 rs894175460 0.3923 None gnomAD-4.0.0 1.59146E-06
5846 24 F/L 35 None 0.0796 None gnomAD-4.0.0 1.20032E-06
5848 26 G/A 40 None 0.3251 None gnomAD-4.0.0 6.84237E-07
5848 26 G/E 40 rs185962498 0.3251 None gnomAD-2.1.1 1.92689E-04
5848 26 G/E 40 rs185962498 0.3251 None gnomAD-3.1.2 2.82954E-04
5848 26 G/E 40 rs185962498 0.3251 None 1000 genomes 3.99361E-04
5848 26 G/E 40 rs185962498 0.3251 None gnomAD-4.0.0 1.53697E-04
5849 27 T/I 41 None 0.7371 None gnomAD-4.0.0 1.59141E-06
5850 28 K/E 42 rs753692209 0.5286 None gnomAD-2.1.1 7.13E-06
5850 28 K/E 42 rs753692209 0.5286 None gnomAD-3.1.2 1.31E-05
5850 28 K/E 42 rs753692209 0.5286 None gnomAD-4.0.0 2.29298E-05
5850 28 K/N 42 rs1364212803 0.5286 None gnomAD-2.1.1 3.19E-05
5850 28 K/N 42 rs1364212803 0.5286 None gnomAD-3.1.2 6.57E-06
5850 28 K/N 42 rs1364212803 0.5286 None gnomAD-4.0.0 6.84237E-07
5850 28 K/R 42 None 0.5286 None gnomAD-4.0.0 1.59141E-06
5851 29 E/G 43 rs547188027 0.9673 None gnomAD-3.1.2 6.57E-06
5851 29 E/G 43 rs547188027 0.9673 None 1000 genomes 1.99681E-04
5851 29 E/G 43 rs547188027 0.9673 None gnomAD-4.0.0 6.56832E-06
5851 29 E/K 43 rs878877605 0.9673 None gnomAD-2.1.1 1.07E-05
5851 29 E/K 43 rs878877605 0.9673 None gnomAD-3.1.2 3.95E-05
5851 29 E/K 43 rs878877605 0.9673 None gnomAD-4.0.0 9.13528E-06
5851 29 E/V 43 rs547188027 0.9673 None gnomAD-4.0.0 1.56042E-05
5852 30 I/S 44 None 0.2077 None gnomAD-4.0.0 1.20032E-06
5852 30 I/V 44 None 0.2077 None gnomAD-4.0.0 1.20032E-06
5853 31 T/I 45 rs2154308873 0.5681 None gnomAD-4.0.0 4.1054E-06
5854 32 A/D 46 None 0.2322 None gnomAD-4.0.0 1.36846E-06
5855 33 K/E 47 None 0.4320 None gnomAD-4.0.0 2.05271E-06
5855 33 K/R 47 rs772017452 0.4320 None gnomAD-2.1.1 4.02E-06
5855 33 K/R 47 rs772017452 0.4320 None gnomAD-3.1.2 6.57E-06
5855 33 K/R 47 rs772017452 0.4320 None gnomAD-4.0.0 2.56249E-06
5856 34 W/R 48 None 0.1052 None gnomAD-4.0.0 1.20032E-06
5857 35 F/L 49 rs779004240 0.1909 None gnomAD-2.1.1 2.41E-05
5857 35 F/L 49 rs779004240 0.1909 None gnomAD-4.0.0 1.11399E-05
5858 36 K/N 50 rs757260797 0.1880 None gnomAD-2.1.1 1.2E-05
5858 36 K/N 50 rs757260797 0.1880 None gnomAD-4.0.0 4.7743E-06
5858 36 K/Q 50 rs376347879 0.1880 None gnomAD-2.1.1 4.02E-06
5858 36 K/Q 50 rs376347879 0.1880 None gnomAD-3.1.2 6.57E-06
5858 36 K/Q 50 rs376347879 0.1880 None gnomAD-4.0.0 9.91547E-06
5860 38 G/D 52 rs754157651 0.5521 None gnomAD-2.1.1 1.2E-05
5860 38 G/D 52 rs754157651 0.5521 None gnomAD-4.0.0 4.78975E-06
5860 38 G/V 52 None 0.5521 None gnomAD-4.0.0 6.8425E-07
5861 39 Q/E 55 None 0.7800 None gnomAD-4.0.0 1.20032E-06
5862 40 E/K 56 rs756303980 0.3526 None gnomAD-2.1.1 4.02E-06
5862 40 E/K 56 rs756303980 0.3526 None gnomAD-4.0.0 2.05274E-06
5863 41 L/Q 58 rs2080395213 0.1509 None gnomAD-4.0.0 1.20032E-06
5863 41 L/V 58 None 0.1509 None gnomAD-4.0.0 1.20032E-06
5865 43 L/P 70 rs1372169677 0.8248 None gnomAD-2.1.1 3.19E-05
5865 43 L/P 70 rs1372169677 0.8248 None gnomAD-3.1.2 1.31E-05
5865 43 L/P 70 rs1372169677 0.8248 None gnomAD-4.0.0 3.84379E-06
5865 43 L/V 70 None 0.8248 None gnomAD-4.0.0 1.59145E-06
5866 44 G/C 73 rs753136638 0.3494 None gnomAD-2.1.1 8.03E-05
5866 44 G/C 73 rs753136638 0.3494 None gnomAD-3.1.2 1.97E-05
5866 44 G/C 73 rs753136638 0.3494 None gnomAD-4.0.0 1.73544E-05
5870 48 K/E 122 None 0.6187 None gnomAD-4.0.0 1.20032E-06
5871 49 I/T 123 rs532976769 0.2393 None gnomAD-2.1.1 8.03E-06
5871 49 I/T 123 rs532976769 0.2393 None gnomAD-3.1.2 6.58E-06
5871 49 I/T 123 rs532976769 0.2393 None gnomAD-4.0.0 5.57763E-06
5871 49 I/V 123 rs1418015513 0.2393 None gnomAD-3.1.2 1.31E-05
5871 49 I/V 123 rs1418015513 0.2393 None gnomAD-4.0.0 3.09869E-06
5872 50 S/I 125 rs752094474 0.4091 None gnomAD-2.1.1 8.03E-06
5872 50 S/I 125 rs752094474 0.4091 None gnomAD-4.0.0 1.59146E-06
5872 50 S/N 125 rs752094474 0.4091 None gnomAD-2.1.1 8.03E-06
5872 50 S/N 125 rs752094474 0.4091 None gnomAD-3.1.2 6.58E-06
5872 50 S/N 125 rs752094474 0.4091 None gnomAD-4.0.0 5.12531E-06
5872 50 S/T 125 None 0.4091 None gnomAD-4.0.0 1.59146E-06
5873 51 V/A 127 rs2080389838 0.4068 None gnomAD-4.0.0 1.20034E-06
5873 51 V/F 127 None 0.4068 None gnomAD-4.0.0 6.84245E-07
5873 51 V/I 127 None 0.4068 None gnomAD-4.0.0 1.36849E-06
5874 52 T/P 130 None 0.4041 None gnomAD-4.0.0 3.18291E-06
5875 53 D/G 131 None 0.6017 None gnomAD-4.0.0 1.20032E-06
5875 53 D/Y 131 rs776136342 0.6017 None gnomAD-2.1.1 4.02E-06
5875 53 D/Y 131 rs776136342 0.6017 None gnomAD-4.0.0 1.59147E-06
5876 54 T/A 134 rs1376088246 0.3675 None gnomAD-4.0.0 1.36851E-06
5877 55 V/A 135 None 0.1743 None gnomAD-4.0.0 1.20032E-06
5878 56 S/L 136 None 0.0684 None gnomAD-4.0.0 1.59153E-06
5878 56 S/P 136 None 0.0684 None gnomAD-4.0.0 1.59154E-06
5879 57 I/K 137 rs1560793812 0.2953 None gnomAD-4.0.0 6.84257E-07
5880 58 L/Q 138 rs1328429496 0.0771 None gnomAD-2.1.1 3.19E-05
5880 58 L/Q 138 rs1328429496 0.0771 None gnomAD-3.1.2 6.58E-06
5880 58 L/Q 138 rs1328429496 0.0771 None gnomAD-4.0.0 6.57566E-06
5880 58 L/R 138 None 0.0771 None gnomAD-4.0.0 6.00161E-06
5882 60 I/T 140 rs763665430 0.1050 None gnomAD-2.1.1 6.42E-05
5882 60 I/T 140 rs763665430 0.1050 None gnomAD-3.1.2 1.31E-05
5882 60 I/T 140 rs763665430 0.1050 None gnomAD-4.0.0 2.69097E-05
5883 61 I/L 141 rs1468000752 0.5014 None gnomAD-2.1.1 1.61E-05
5883 61 I/L 141 rs1468000752 0.5014 None gnomAD-4.0.0 6.36659E-06
5886 64 E/D 145 None 0.3285 None gnomAD-4.0.0 1.59168E-06
5886 64 E/V 145 None 0.3285 None gnomAD-4.0.0 1.59169E-06
5887 65 K/N 146 rs878956662 0.7797 None gnomAD-4.0.0 1.23174E-05
5887 65 K/R 146 rs527439656 0.7797 None gnomAD-2.1.1 8.04E-06
5887 65 K/R 146 rs527439656 0.7797 None gnomAD-3.1.2 6.57E-06
5887 65 K/R 146 rs527439656 0.7797 None 1000 genomes 1.99681E-04
5887 65 K/R 146 rs527439656 0.7797 None gnomAD-4.0.0 5.57734E-06
5888 66 K/Q 148 rs1176630529 0.4483 None gnomAD-2.1.1 4.02E-06
5888 66 K/Q 148 rs1176630529 0.4483 None gnomAD-4.0.0 1.59169E-06
5890 68 S/T 151 rs775293848 0.3598 None gnomAD-2.1.1 3.62E-05
5890 68 S/T 151 rs775293848 0.3598 None gnomAD-3.1.2 6.57E-06
5890 68 S/T 151 rs775293848 0.3598 None gnomAD-4.0.0 1.28158E-05
5891 69 G/E 152 rs1419194917 0.2392 None gnomAD-2.1.1 4.02E-06
5891 69 G/E 152 rs1419194917 0.2392 None gnomAD-4.0.0 1.59195E-06
5891 69 G/R 152 None 0.2392 None gnomAD-4.0.0 1.20032E-06
5891 69 G/V 152 rs1419194917 0.2392 None gnomAD-2.1.1 4.02E-06
5891 69 G/V 152 rs1419194917 0.2392 None gnomAD-4.0.0 1.59195E-06
5893 71 Y/C 154 None 0.1257 None gnomAD-4.0.0 1.20032E-06
5896 74 E/K 157 rs561557554 0.3547 None gnomAD-2.1.1 2.07454E-04
5896 74 E/K 157 rs561557554 0.3547 None gnomAD-3.1.2 1.5133E-04
5896 74 E/K 157 rs561557554 0.3547 None 1000 genomes 3.99361E-04
5896 74 E/K 157 rs561557554 0.3547 None gnomAD-4.0.0 9.79732E-05
5896 74 E/Q 157 rs561557554 0.3547 None gnomAD-3.1.2 6.58E-06
5896 74 E/Q 157 rs561557554 0.3547 None gnomAD-4.0.0 2.48052E-06
5897 75 V/L 158 rs2080377213 0.0940 None gnomAD-3.1.2 6.58E-06
5897 75 V/L 158 rs2080377213 0.0940 None gnomAD-4.0.0 6.57938E-06
5898 76 Q/K 159 rs1462892188 0.4938 None gnomAD-2.1.1 4.03E-06
5900 78 D/Y 162 None 0.6704 None gnomAD-4.0.0 6.00162E-06
5902 80 G/E 164 rs1346456739 0.2421 None gnomAD-2.1.1 4.04E-06
5902 80 G/E 164 rs1346456739 0.2421 None gnomAD-4.0.0 1.30212E-05
5902 80 G/R 164 rs770836683 0.2421 None gnomAD-2.1.1 4.04E-06
5902 80 G/R 164 rs770836683 0.2421 None gnomAD-4.0.0 1.59727E-06
5902 80 G/V 164 rs1346456739 0.2421 None gnomAD-3.1.2 6.58E-06
5902 80 G/V 164 rs1346456739 0.2421 None gnomAD-4.0.0 6.57834E-06
5904 82 S/G 166 rs749341609 0.2091 None gnomAD-2.1.1 1.44E-05
5904 82 S/G 166 rs749341609 0.2091 None gnomAD-3.1.2 3.29E-05
5904 82 S/G 166 rs749341609 0.2091 None gnomAD-4.0.0 4.9688E-06
5904 82 S/N 166 rs1234235732 0.2091 None gnomAD-3.1.2 6.58E-06
5904 82 S/N 166 rs1234235732 0.2091 None gnomAD-4.0.0 6.57687E-06
5904 82 S/R 166 None 0.2091 None gnomAD-4.0.0 1.20032E-06
5904 82 S/T 166 None 0.2091 None gnomAD-4.0.0 1.60137E-06
5905 83 S/N 168 rs756323124 0.4869 None gnomAD-2.1.1 4.06E-06
5906 84 C/F 169 rs1239818599 0.1280 None gnomAD-2.1.1 8.15E-06
5906 84 C/F 169 rs1239818599 0.1280 None gnomAD-4.0.0 2.74728E-06
5906 84 C/S 169 None 0.1280 None gnomAD-4.0.0 1.60327E-06
5906 84 C/Y 169 rs1239818599 0.1280 None gnomAD-4.0.0 6.86819E-07
5908 86 A/D 172 None 0.1508 None gnomAD-4.0.0 6.87876E-07
5908 86 A/S 172 rs748353299 0.1508 None gnomAD-2.1.1 8.2E-06
5908 86 A/S 172 rs748353299 0.1508 None gnomAD-4.0.0 4.81439E-06
5908 86 A/T 172 None 0.1508 None gnomAD-4.0.0 6.8777E-07
5908 86 A/V 172 None 0.1508 None gnomAD-4.0.0 6.87876E-07
5909 87 R/I 173 rs2080369871 0.4519 None gnomAD-4.0.0 1.61471E-06
5910 88 I/V 174 rs1311857097 0.1377 None gnomAD-2.1.1 4.13E-06
5910 88 I/V 174 rs1311857097 0.1377 None gnomAD-4.0.0 1.29226E-05
5911 89 N/H 175 rs781725187 0.4542 None gnomAD-2.1.1 4.15E-06
5911 89 N/H 175 rs781725187 0.4542 None gnomAD-4.0.0 1.62191E-06
5912 90 V/I 176 rs879030996 0.2971 None gnomAD-3.1.2 6.58E-06
5912 90 V/I 176 rs879030996 0.2971 None gnomAD-4.0.0 2.49949E-06