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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
17765 2 P/S 2 rs1298494593 0.1131 None gnomAD-2.1.1 4.04E-06
17765 2 P/S 2 rs1298494593 0.1131 None gnomAD-4.0.0 1.59458E-06
17766 3 G/D 3 None 0.2313 None gnomAD-4.0.0 1.36965E-05
17767 4 P/L 4 rs1465233091 0.4678 None gnomAD-4.0.0 2.05427E-06
17767 4 P/S 4 None 0.4678 None gnomAD-4.0.0 6.84757E-07
17767 4 P/T 4 rs1243704778 0.4678 None gnomAD-3.1.2 6.58E-06
17769 6 L/V 6 rs759317677 0.4141 None gnomAD-2.1.1 2.02E-05
17769 6 L/V 6 rs759317677 0.4141 None gnomAD-3.1.2 6.58E-06
17769 6 L/V 6 rs759317677 0.4141 None gnomAD-4.0.0 1.30233E-05
17770 7 D/E 7 None 0.6362 None gnomAD-4.0.0 1.20032E-06
17771 8 L/I 9 rs2055111857 0.1936 None gnomAD-4.0.0 1.59377E-06
17773 10 P/A 12 None 0.4418 None gnomAD-4.0.0 1.20032E-06
17774 11 V/A 13 rs770511876 0.4947 None gnomAD-2.1.1 4.04E-06
17774 11 V/A 13 rs770511876 0.4947 None gnomAD-4.0.0 1.59361E-06
17779 16 K/N 18 rs374831529 0.5489 None gnomAD-2.1.1 4.03E-06
17779 16 K/R 18 rs1402899150 0.5489 None gnomAD-2.1.1 4.04E-06
17779 16 K/R 18 rs1402899150 0.5489 None gnomAD-4.0.0 3.18713E-06
17780 17 M/I 19 None 0.1809 None gnomAD-4.0.0 1.20032E-06
17780 17 M/T 19 rs879003153 0.1809 None gnomAD-2.1.1 4.03E-06
17780 17 M/T 19 rs879003153 0.1809 None gnomAD-4.0.0 1.59343E-06
17781 18 C/S 20 rs1427330384 0.0888 None gnomAD-2.1.1 4.03E-06
17781 18 C/S 20 rs1427330384 0.0888 None gnomAD-4.0.0 6.16144E-06
17782 19 L/V 21 rs1178247710 0.2072 None gnomAD-2.1.1 4.03E-06
17782 19 L/V 21 rs1178247710 0.2072 None gnomAD-3.1.2 6.58E-06
17782 19 L/V 21 rs1178247710 0.2072 None gnomAD-4.0.0 6.20081E-06
17783 20 L/P 22 rs777712545 0.1064 None gnomAD-2.1.1 4.03E-06
17786 23 S/C 25 rs1060500485 0.2734 None gnomAD-2.1.1 4.03E-06
17786 23 S/C 25 rs1060500485 0.2734 None gnomAD-4.0.0 3.42279E-06
17786 23 S/Y 25 rs1060500485 0.2734 None gnomAD-2.1.1 4.03E-06
17786 23 S/Y 25 rs1060500485 0.2734 None gnomAD-4.0.0 9.58382E-06
17788 25 P/Q 27 rs1456305922 0.1959 None gnomAD-2.1.1 4.03E-06
17788 25 P/Q 27 rs1456305922 0.1959 None gnomAD-4.0.0 3.18626E-06
17790 27 D/G 29 None 0.6625 None gnomAD-4.0.0 2.05361E-06
17792 29 G/R 31 None 0.1043 None gnomAD-4.0.0 3.18607E-06
17793 30 G/E 32 None 0.2834 None gnomAD-4.0.0 1.59302E-06
17795 32 E/D 34 rs1447853975 0.8058 None gnomAD-3.1.2 6.58E-06
17795 32 E/D 34 rs1447853975 0.8058 None gnomAD-4.0.0 6.57825E-06
17795 32 E/K 34 None 0.8058 None gnomAD-4.0.0 6.16065E-06
17797 34 T/I 36 rs727503610 0.3621 None gnomAD-2.1.1 1.07E-05
17797 34 T/I 36 rs727503610 0.3621 None gnomAD-3.1.2 1.32E-05
17797 34 T/I 36 rs727503610 0.3621 None gnomAD-4.0.0 4.34004E-06
17798 35 G/A 37 None 0.1147 None gnomAD-4.0.0 1.20033E-06
17801 38 I/F 40 rs1322346815 0.0781 None gnomAD-2.1.1 4.03E-06
17801 38 I/L 40 None 0.0781 None gnomAD-4.0.0 1.20032E-06
17801 38 I/T 40 rs370929667 0.0781 None gnomAD-2.1.1 1.21E-05
17801 38 I/T 40 rs370929667 0.0781 None gnomAD-3.1.2 1.32E-05
17801 38 I/T 40 rs370929667 0.0781 None gnomAD-4.0.0 1.48804E-05
17801 38 I/V 40 rs1322346815 0.0781 None gnomAD-2.1.1 3.19E-05
17802 39 E/D 41 None 0.1652 None gnomAD-4.0.0 1.20032E-06
17802 39 E/G 41 None 0.1652 None gnomAD-4.0.0 1.59287E-06
17805 42 D/Y 44 rs1051218836 0.2412 None gnomAD-2.1.1 4.03E-06
17805 42 D/Y 44 rs1051218836 0.2412 None gnomAD-4.0.0 2.05351E-06
17807 44 K/M 54 None 0.8553 None gnomAD-4.0.0 2.0535E-06
17807 44 K/R 54 None 0.8553 None gnomAD-4.0.0 6.845E-07
17807 44 K/T 54 rs747883893 0.8553 None gnomAD-2.1.1 4.02E-06
17807 44 K/T 54 rs747883893 0.8553 None gnomAD-4.0.0 6.845E-07
17808 45 M/I 60 rs1018984134 0.4425 None gnomAD-3.1.2 1.32E-05
17808 45 M/I 60 rs1018984134 0.4425 None gnomAD-4.0.0 3.0998E-06
17809 46 H/R 63 None 1.0904 None gnomAD-4.0.0 2.40064E-06
17811 48 W/C 65 rs1306991684 0.2263 None gnomAD-2.1.1 4.03E-06
17811 48 W/C 65 rs1306991684 0.2263 None gnomAD-4.0.0 3.18567E-06
17812 49 R/S 66 None 0.6089 None gnomAD-4.0.0 1.20032E-06
17813 50 Q/R 67 rs781026874 0.5644 None gnomAD-2.1.1 4.03E-06
17814 51 P/R 68 rs1332418723 0.5225 None gnomAD-2.1.1 4.03E-06
17814 51 P/R 68 rs1332418723 0.5225 None gnomAD-3.1.2 6.58E-06
17814 51 P/R 68 rs1332418723 0.5225 None gnomAD-4.0.0 7.44046E-06
17815 52 I/M 69 rs370843257 0.2984 None gnomAD-2.1.1 2.01E-05
17815 52 I/M 69 rs370843257 0.2984 None gnomAD-3.1.2 6.58E-06
17815 52 I/M 69 rs370843257 0.2984 None gnomAD-4.0.0 3.71992E-06
17815 52 I/T 69 rs374563054 0.2984 None gnomAD-2.1.1 2.14E-05
17815 52 I/T 69 rs374563054 0.2984 None gnomAD-3.1.2 5.26E-05
17815 52 I/T 69 rs374563054 0.2984 None gnomAD-4.0.0 1.61189E-05
17815 52 I/V 69 rs368065637 0.2984 None gnomAD-2.1.1 2.42E-05
17815 52 I/V 69 rs368065637 0.2984 None gnomAD-3.1.2 1.97E-05
17815 52 I/V 69 rs368065637 0.2984 None gnomAD-4.0.0 3.71993E-05
17816 53 E/G 70 None 0.5848 None gnomAD-4.0.0 2.05356E-06
17816 53 E/V 70 None 0.5848 None gnomAD-4.0.0 6.84519E-07
17818 55 E/D 83 rs1055155891 0.8644 None gnomAD-3.1.2 6.58E-06
17818 55 E/D 83 rs1055155891 0.8644 None gnomAD-4.0.0 6.57964E-06
17824 61 I/T 93 rs765709539 0.1011 None gnomAD-2.1.1 3.63E-05
17824 61 I/T 93 rs765709539 0.1011 None gnomAD-3.1.2 6.58E-06
17824 61 I/T 93 rs765709539 0.1011 None gnomAD-4.0.0 1.17809E-05
17825 62 T/I 94 rs2055078355 0.5674 None gnomAD-4.0.0 1.20032E-06
17826 63 G/C 96 None 0.3389 None gnomAD-4.0.0 1.59317E-06
17826 63 G/D 96 rs1158023438 0.3389 None gnomAD-2.1.1 4.03E-06
17826 63 G/D 96 rs1158023438 0.3389 None gnomAD-4.0.0 6.84567E-07
17826 63 G/V 96 rs1158023438 0.3389 None gnomAD-4.0.0 1.36913E-06
17827 64 L/V 97 rs762423166 0.0969 None gnomAD-2.1.1 4.84E-05
17827 64 L/V 97 rs762423166 0.0969 None gnomAD-3.1.2 2.63E-05
17827 64 L/V 97 rs762423166 0.0969 None gnomAD-4.0.0 5.38673E-05
17828 65 L/V 98 None 0.6190 None gnomAD-4.0.0 1.20032E-06
17829 66 E/K 99 rs1460605461 0.4254 None gnomAD-2.1.1 4.03E-06
17829 66 E/K 99 rs1460605461 0.4254 None gnomAD-4.0.0 1.59338E-06
17829 66 E/V 99 rs764618019 0.4254 None gnomAD-2.1.1 7.16E-06
17829 66 E/V 99 rs764618019 0.4254 None gnomAD-3.1.2 6.58E-06
17829 66 E/V 99 rs764618019 0.4254 None gnomAD-4.0.0 2.48033E-06
17830 67 G/E 100 rs774099078 0.3638 None gnomAD-2.1.1 4.03E-06
17830 67 G/E 100 rs774099078 0.3638 None gnomAD-4.0.0 1.5934E-06
17830 67 G/R 100 rs759231562 0.3638 None gnomAD-2.1.1 4.03E-06
17830 67 G/R 100 rs759231562 0.3638 None gnomAD-4.0.0 4.10769E-06
17832 69 E/A 103 None 0.4640 None gnomAD-4.0.0 2.05392E-05
17833 70 Y/F 104 None 0.0983 None gnomAD-4.0.0 1.36932E-06
17833 70 Y/H 104 rs1238654352 0.0983 None gnomAD-2.1.1 8.06E-06
17833 70 Y/H 104 rs1238654352 0.0983 None gnomAD-4.0.0 3.1874E-06
17836 73 R/C 107 rs376153809 0.1532 None gnomAD-2.1.1 8.07E-06
17836 73 R/C 107 rs376153809 0.1532 None gnomAD-3.1.2 1.32E-05
17836 73 R/C 107 rs376153809 0.1532 None gnomAD-4.0.0 1.98475E-05
17836 73 R/H 107 rs373526624 0.1532 None gnomAD-2.1.1 6.26908E-04
17836 73 R/H 107 rs373526624 0.1532 None gnomAD-3.1.2 1.97423E-04
17836 73 R/H 107 rs373526624 0.1532 None 1000 genomes 1.39776E-03
17836 73 R/H 107 rs373526624 0.1532 None gnomAD-4.0.0 3.1876E-04
17836 73 R/S 107 rs376153809 0.1532 None gnomAD-3.1.2 6.58E-06
17836 73 R/S 107 rs376153809 0.1532 None gnomAD-4.0.0 6.58345E-06
17838 75 I/T 109 None 0.1261 None gnomAD-4.0.0 1.59447E-06
17838 75 I/V 109 rs1339075657 0.1261 None gnomAD-2.1.1 4.04E-06
17838 75 I/V 109 rs1339075657 0.1261 None gnomAD-4.0.0 1.59448E-06
17839 76 A/V 110 None 0.1025 None gnomAD-4.0.0 1.59479E-06
17840 77 K/N 111 rs769761717 0.3125 None gnomAD-2.1.1 4.04E-06
17840 77 K/N 111 rs769761717 0.3125 None gnomAD-4.0.0 6.84859E-07
17841 78 N/K 112 None 0.0833 None gnomAD-4.0.0 6.8483E-07
17842 79 K/N 113 None 0.6190 None gnomAD-4.0.0 6.84901E-07
17843 80 F/V 114 None 0.2622 None gnomAD-4.0.0 1.20032E-06
17843 80 F/Y 114 rs1425791668 0.2622 None gnomAD-2.1.1 3.19E-05
17843 80 F/Y 114 rs1425791668 0.2622 None gnomAD-3.1.2 6.58E-06
17843 80 F/Y 114 rs1425791668 0.2622 None gnomAD-4.0.0 6.58007E-06
17844 81 G/S 115 rs748153885 0.2058 None gnomAD-2.1.1 4.04E-06
17844 81 G/S 115 rs748153885 0.2058 None gnomAD-4.0.0 1.59519E-06
17845 82 C/Y 117 None 0.3727 None gnomAD-4.0.0 1.5954E-06
17846 83 G/C 118 rs1559733949 0.1902 None gnomAD-4.0.0 1.37003E-06
17846 83 G/D 118 rs1296371746 0.1902 None gnomAD-2.1.1 4.04E-06
17846 83 G/D 118 rs1296371746 0.1902 None gnomAD-4.0.0 1.59548E-06
17846 83 G/S 118 rs1559733949 0.1902 None gnomAD-2.1.1 4.05E-06
17846 83 G/S 118 rs1559733949 0.1902 None gnomAD-4.0.0 6.85015E-07
17848 85 P/T 120 None 0.3940 None gnomAD-4.0.0 4.79528E-06
17849 86 V/A 121 None 0.2818 None gnomAD-4.0.0 1.59586E-06
17849 86 V/I 121 None 0.2818 None gnomAD-4.0.0 6.8514E-07
17849 86 V/L 121 rs746831431 0.2818 None gnomAD-2.1.1 8.09E-06
17849 86 V/L 121 rs746831431 0.2818 None gnomAD-3.1.2 6.58E-06
17849 86 V/L 121 rs746831431 0.2818 None gnomAD-4.0.0 4.84011E-05
17850 87 E/A 122 rs780284047 0.3849 None gnomAD-2.1.1 4.05E-06
17850 87 E/A 122 rs780284047 0.3849 None gnomAD-4.0.0 2.05544E-06
17851 88 I/T 123 rs1458259896 0.2152 None gnomAD-4.0.0 2.74079E-06
17851 88 I/V 123 rs1472380264 0.2152 None gnomAD-2.1.1 4.05E-06
17851 88 I/V 123 rs1472380264 0.2152 None gnomAD-4.0.0 1.59628E-06
17853 90 P/R 126 rs727503609 0.4977 None gnomAD-4.0.0 3.19817E-06
17853 90 P/S 126 rs758554548 0.4977 None gnomAD-2.1.1 4.05E-06
17853 90 P/S 126 rs758554548 0.4977 None gnomAD-3.1.2 6.58E-06
17853 90 P/S 126 rs758554548 0.4977 None gnomAD-4.0.0 6.58371E-06
17854 91 I/N 127 rs375796420 0.2217 None gnomAD-2.1.1 3.24E-05
17854 91 I/N 127 rs375796420 0.2217 None gnomAD-3.1.2 3.95E-05
17854 91 I/N 127 rs375796420 0.2217 None 1000 genomes 1.99681E-04
17854 91 I/N 127 rs375796420 0.2217 None gnomAD-4.0.0 1.67659E-05
17856 93 A/T 130 None 0.0673 None gnomAD-4.0.0 6.86277E-07
17857 94 V/A 131 rs1352428551 0.3630 None gnomAD-2.1.1 3.19E-05
17857 94 V/A 131 rs1352428551 0.3630 None gnomAD-3.1.2 6.58E-06
17857 94 V/A 131 rs1352428551 0.3630 None gnomAD-4.0.0 5.15981E-06
17857 94 V/F 131 rs1423994048 0.3630 None gnomAD-2.1.1 3.19E-05
17857 94 V/F 131 rs1423994048 0.3630 None gnomAD-3.1.2 1.32E-05
17857 94 V/F 131 rs1423994048 0.3630 None gnomAD-4.0.0 1.86471E-06
17857 94 V/I 131 rs1423994048 0.3630 None gnomAD-2.1.1 1.23E-05
17857 94 V/I 131 rs1423994048 0.3630 None gnomAD-3.1.2 6.58E-06
17857 94 V/I 131 rs1423994048 0.3630 None gnomAD-4.0.0 3.72942E-06
17857 94 V/L 131 None 0.3630 None gnomAD-4.0.0 6.86396E-07