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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
2882 1 L/V 1 None 0.3461 None gnomAD-4.0.0 1.20032E-06
2883 2 H/Q 2 rs763935915 0.1751 None gnomAD-2.1.1 2.79E-05
2883 2 H/Q 2 rs763935915 0.1751 None gnomAD-3.1.2 6.57E-06
2883 2 H/Q 2 rs763935915 0.1751 None gnomAD-4.0.0 9.2936E-06
2883 2 H/R 2 rs753833148 0.1751 None gnomAD-2.1.1 2E-05
2883 2 H/R 2 rs753833148 0.1751 None gnomAD-3.1.2 1.97E-05
2883 2 H/R 2 rs753833148 0.1751 None gnomAD-4.0.0 1.3011E-05
2884 3 I/V 3 rs1390184716 0.1058 None gnomAD-2.1.1 3.99E-06
2884 3 I/V 3 rs1390184716 0.1058 None gnomAD-4.0.0 2.05224E-06
2885 4 T/I 4 rs756258905 0.2009 None gnomAD-2.1.1 2.79E-05
2885 4 T/I 4 rs756258905 0.2009 None gnomAD-4.0.0 2.70398E-05
2887 6 T/I 7 None 0.4005 None gnomAD-4.0.0 1.59058E-06
2887 6 T/N 7 rs752697997 0.4005 None gnomAD-2.1.1 3.99E-06
2887 6 T/N 7 rs752697997 0.4005 None gnomAD-4.0.0 9.5435E-06
2888 7 M/L 8 rs1038686184 0.1077 None gnomAD-2.1.1 3.99E-06
2888 7 M/L 8 rs1038686184 0.1077 None gnomAD-4.0.0 1.11341E-05
2888 7 M/V 8 rs1038686184 0.1077 None gnomAD-3.1.2 1.31E-05
2888 7 M/V 8 rs1038686184 0.1077 None gnomAD-4.0.0 3.84187E-06
2889 8 K/R 9 rs1245891851 0.5549 None gnomAD-2.1.1 3.99E-06
2889 8 K/R 9 rs1245891851 0.5549 None gnomAD-4.0.0 1.36817E-06
2889 8 K/T 9 None 0.5549 None gnomAD-4.0.0 6.84087E-07
2890 9 N/D 11 rs767589357 0.4199 None gnomAD-2.1.1 2.39E-05
2890 9 N/D 11 rs767589357 0.4199 None gnomAD-4.0.0 1.7496E-05
2890 9 N/S 11 rs1574561545 0.4199 None gnomAD-4.0.0 1.36816E-06
2890 9 N/T 11 None 0.4199 None gnomAD-4.0.0 6.84082E-07
2891 10 I/M 13 rs766867322 0.1561 None gnomAD-4.0.0 1.36819E-06
2891 10 I/T 13 rs774651047 0.1561 None gnomAD-2.1.1 3.99E-06
2891 10 I/V 13 None 0.1561 None gnomAD-4.0.0 1.5906E-06
2892 11 E/K 14 rs763393324 0.3776 None gnomAD-2.1.1 1.2E-05
2892 11 E/K 14 rs763393324 0.3776 None gnomAD-3.1.2 6.58E-06
2892 11 E/K 14 rs763393324 0.3776 None gnomAD-4.0.0 1.30129E-05
2892 11 E/Q 14 rs763393324 0.3776 None gnomAD-2.1.1 3.99E-06
2892 11 E/Q 14 rs763393324 0.3776 None gnomAD-3.1.2 6.58E-06
2892 11 E/Q 14 rs763393324 0.3776 None gnomAD-4.0.0 1.23933E-06
2893 12 V/M 16 None 0.1386 None gnomAD-4.0.0 2.40064E-06
2894 13 P/L 18 None 0.3541 None gnomAD-4.0.0 1.20032E-06
2896 15 T/I 24 rs72647884 0.3162 ARVC
Literature None
2896 15 T/I 24 rs72647884 0.3162 None gnomAD-4.0.0 1.59054E-06
2898 17 T/A 26 None 0.3311 None gnomAD-4.0.0 1.20032E-06
2899 18 A/S 28 rs1561217531 0.1295 None gnomAD-2.1.1 3.99E-06
2899 18 A/S 28 rs1561217531 0.1295 None gnomAD-4.0.0 1.59053E-06
2902 21 E/A 31 rs2091213467 0.1666 None gnomAD-3.1.2 1.31E-05
2902 21 E/A 31 rs2091213467 0.1666 None gnomAD-4.0.0 3.84183E-06
2902 21 E/G 31 None 0.1666 None gnomAD-4.0.0 1.59053E-06
2902 21 E/Q 31 rs143767300 0.1666 None gnomAD-2.1.1 7.97E-06
2902 21 E/Q 31 rs143767300 0.1666 None gnomAD-3.1.2 6.57E-06
2902 21 E/Q 31 rs143767300 0.1666 None gnomAD-4.0.0 2.5613E-06
2904 23 E/K 34 rs794729583 0.2907 None gnomAD-4.0.0 6.15665E-06
2905 24 V/A 35 None 0.0920 None gnomAD-4.0.0 1.59052E-06
2905 24 V/L 35 rs369380469 0.0920 None gnomAD-4.0.0 2.05221E-06
2905 24 V/M 35 rs369380469 0.0920 None gnomAD-2.1.1 1.06E-05
2905 24 V/M 35 rs369380469 0.0920 None gnomAD-3.1.2 1.31E-05
2905 24 V/M 35 rs369380469 0.0920 None gnomAD-4.0.0 5.5763E-06
2907 26 H/D 40 None 0.3018 None gnomAD-4.0.0 1.59052E-06
2907 26 H/N 40 None 0.3018 None gnomAD-4.0.0 1.59052E-06
2907 26 H/Q 40 None 0.3018 None gnomAD-4.0.0 1.20032E-06
2908 27 F/L 41 None 0.4790 None gnomAD-4.0.0 1.59049E-06
2909 28 N/S 42 rs1300254374 0.9864 None gnomAD-2.1.1 1.77E-05
2909 28 N/S 42 rs1300254374 0.9864 None gnomAD-3.1.2 5.92E-05
2909 28 N/S 42 rs1300254374 0.9864 None gnomAD-4.0.0 1.487E-05
2909 28 N/Y 42 None 0.9864 None gnomAD-4.0.0 7.52473E-06
2910 29 V/I 43 None 0.1781 None gnomAD-4.0.0 1.59049E-06
2911 30 P/R 45 rs770166191 0.4297 None gnomAD-2.1.1 3.99E-06
2911 30 P/R 45 rs770166191 0.4297 None gnomAD-4.0.0 1.59049E-06
2912 31 S/F 46 None 0.1291 None gnomAD-4.0.0 1.20032E-06
2914 33 W/R 48 None 0.0890 None gnomAD-4.0.0 1.59049E-06
2915 34 L/Q 49 None 0.1461 None gnomAD-4.0.0 6.84065E-07
2915 34 L/R 49 None 0.1461 None gnomAD-4.0.0 6.84065E-07
2917 36 N/S 51 rs1420302039 0.4731 None gnomAD-3.1.2 6.57E-06
2917 36 N/S 51 rs1420302039 0.4731 None gnomAD-4.0.0 6.5735E-06
2918 37 G/A 52 rs746575522 0.3132 None gnomAD-2.1.1 1.06E-05
2918 37 G/A 52 rs746575522 0.3132 None gnomAD-3.1.2 1.31E-05
2918 37 G/A 52 rs746575522 0.3132 None gnomAD-4.0.0 7.68397E-06
2918 37 G/R 52 None 0.3132 None gnomAD-4.0.0 1.20032E-06
2919 38 V/E 55 None 0.4842 None gnomAD-4.0.0 1.59046E-06
2919 38 V/L 55 rs1407181153 0.4842 None gnomAD-2.1.1 3.98E-06
2919 38 V/L 55 rs1407181153 0.4842 None gnomAD-4.0.0 1.59047E-06
2919 38 V/M 55 rs1407181153 0.4842 None gnomAD-4.0.0 1.59047E-06
2920 39 E/G 56 None 0.2889 None gnomAD-4.0.0 1.59046E-06
2920 39 E/Q 56 rs911601060 0.2889 None gnomAD-2.1.1 3.98E-06
2920 39 E/Q 56 rs911601060 0.2889 None gnomAD-4.0.0 1.59047E-06
2924 43 S/N 73 rs745523949 0.1550 None gnomAD-2.1.1 3.98E-06
2924 43 S/N 73 rs745523949 0.1550 None gnomAD-4.0.0 1.16291E-05
2924 43 S/R 73 rs778525693 0.1550 None gnomAD-2.1.1 3.19E-05
2924 43 S/R 73 rs778525693 0.1550 None gnomAD-3.1.2 6.57E-06
2924 43 S/R 73 rs778525693 0.1550 None gnomAD-4.0.0 1.59049E-06
2924 43 S/T 73 rs745523949 0.1550 None gnomAD-4.0.0 6.84062E-07
2927 46 F/S 121 rs2091198989 0.1546 None gnomAD-4.0.0 3.18094E-06
2928 47 K/Q 122 None 0.1825 None gnomAD-4.0.0 2.40064E-06
2928 47 K/R 122 None 0.1825 None gnomAD-4.0.0 1.59046E-06
2929 48 I/M 123 None 0.1564 None gnomAD-4.0.0 1.20032E-06
2929 48 I/R 123 rs757111808 0.1564 None gnomAD-2.1.1 1.2E-05
2929 48 I/R 123 rs757111808 0.1564 None gnomAD-4.0.0 1.11334E-05
2929 48 I/T 123 rs757111808 0.1564 None gnomAD-2.1.1 3.99E-06
2929 48 I/T 123 rs757111808 0.1564 None gnomAD-4.0.0 1.59049E-06
2930 49 V/D 125 None 0.3405 None gnomAD-4.0.0 1.59047E-06
2930 49 V/G 125 rs1246031215 0.3405 None gnomAD-2.1.1 3.99E-06
2930 49 V/G 125 rs1246031215 0.3405 None gnomAD-3.1.2 6.57E-06
2930 49 V/G 125 rs1246031215 0.3405 None gnomAD-4.0.0 2.56135E-06
2930 49 V/I 125 rs56373393 0.3405 None gnomAD-2.1.1 2.72761E-04
2930 49 V/I 125 rs56373393 0.3405 None gnomAD-3.1.2 8.55E-05
2930 49 V/I 125 rs56373393 0.3405 None 1000 genomes 9.98403E-04
2930 49 V/I 125 rs56373393 0.3405 None gnomAD-4.0.0 8.85968E-05
2931 50 V/A 127 None 0.2728 None gnomAD-4.0.0 2.73625E-06
2931 50 V/L 127 rs756031984 0.2728 None gnomAD-2.1.1 3.99E-06
2931 50 V/M 127 rs756031984 0.2728 None gnomAD-2.1.1 3.99E-06
2931 50 V/M 127 rs756031984 0.2728 None gnomAD-4.0.0 1.59046E-06
2932 51 Q/R 130 rs1490705975 0.6266 None gnomAD-2.1.1 3.99E-06
2932 51 Q/R 130 rs1490705975 0.6266 None gnomAD-4.0.0 1.59048E-06
2933 52 G/E 131 rs1406534791 0.1924 None gnomAD-4.0.0 1.20032E-06
2934 53 K/R 134 rs2091195170 0.2557 None gnomAD-4.0.0 1.20032E-06
2936 55 H/R 136 rs548456466 0.0981 None gnomAD-2.1.1 7.97E-06
2936 55 H/R 136 rs548456466 0.0981 None 1000 genomes 1.99681E-04
2938 57 L/V 138 rs755055056 0.0628 None gnomAD-2.1.1 3.54E-05
2938 57 L/V 138 rs755055056 0.0628 None gnomAD-3.1.2 1.32E-05
2938 57 L/V 138 rs755055056 0.0628 None gnomAD-4.0.0 1.79312E-05
2939 58 I/T 139 None 0.2419 None gnomAD-4.0.0 1.20032E-06
2940 59 I/S 140 None 0.0804 None gnomAD-4.0.0 1.59048E-06
2940 59 I/V 140 rs939966359 0.0804 None gnomAD-4.0.0 1.59048E-06
2941 60 M/L 141 None 0.2850 None gnomAD-4.0.0 1.59049E-06
2941 60 M/T 141 rs766700696 0.2850 None gnomAD-2.1.1 7.09E-06
2941 60 M/T 141 rs766700696 0.2850 None gnomAD-3.1.2 1.32E-05
2941 60 M/T 141 rs766700696 0.2850 None gnomAD-4.0.0 5.12315E-06
2941 60 M/V 141 rs1344696996 0.2850 None gnomAD-2.1.1 3.99E-06
2941 60 M/V 141 rs1344696996 0.2850 None gnomAD-3.1.2 1.31E-05
2941 60 M/V 141 rs1344696996 0.2850 None gnomAD-4.0.0 6.40323E-06
2943 62 T/I 144 rs1316613829 0.0823 None gnomAD-4.0.0 1.5905E-06
2944 63 S/R 145 rs773424866 0.1358 None gnomAD-2.1.1 3.99E-06
2944 63 S/R 145 rs773424866 0.1358 None gnomAD-4.0.0 6.84068E-07
2945 64 T/A 146 None 0.4745 None gnomAD-4.0.0 3.18102E-06
2946 65 E/D 148 None 0.5157 None gnomAD-4.0.0 1.20032E-06
2948 67 S/L 151 rs397517763 0.2090 None gnomAD-2.1.1 3.99E-06
2948 67 S/L 151 rs397517763 0.2090 None gnomAD-4.0.0 7.52511E-06
2949 68 A/S 152 None 0.1001 None gnomAD-4.0.0 1.59075E-06
2950 69 E/G 153 None 0.3903 None gnomAD-4.0.0 1.20032E-06
2952 71 T/A 155 rs879010411 0.1167 None gnomAD-2.1.1 4E-06
2952 71 T/A 155 rs879010411 0.1167 None gnomAD-4.0.0 1.59101E-06
2952 71 T/I 155 rs1236189232 0.1167 None gnomAD-3.1.2 6.58E-06
2952 71 T/I 155 rs1236189232 0.1167 None gnomAD-4.0.0 1.15303E-05
2954 73 V/D 157 rs973559075 0.1732 None gnomAD-4.0.0 1.20032E-06
2954 73 V/F 157 rs762256991 0.1732 None gnomAD-2.1.1 5.33E-05
2954 73 V/F 157 rs762256991 0.1732 None gnomAD-3.1.2 6.58E-06
2954 73 V/F 157 rs762256991 0.1732 None gnomAD-4.0.0 1.17756E-05
2954 73 V/I 157 None 0.1732 None gnomAD-4.0.0 6.84212E-07
2955 74 C/Y 158 None 0.1101 None gnomAD-4.0.0 9.6026E-06
2956 75 G/V 159 None 0.2708 None gnomAD-4.0.0 1.20032E-06
2957 76 N/D 161 rs138465450 0.6936 None gnomAD-2.1.1 4.01E-06
2957 76 N/D 161 rs138465450 0.6936 None gnomAD-3.1.2 1.32E-05
2957 76 N/D 161 rs138465450 0.6936 None gnomAD-4.0.0 5.12543E-06
2957 76 N/S 161 None 0.6936 None gnomAD-4.0.0 1.59171E-06
2958 77 D/G 162 None 0.2256 None gnomAD-4.0.0 1.5916E-06
2958 77 D/Y 162 rs745379216 0.2256 None gnomAD-2.1.1 4.01E-06
2958 77 D/Y 162 rs745379216 0.2256 None gnomAD-4.0.0 3.18347E-06
2959 78 Q/L 163 rs2091182281 0.4296 None gnomAD-4.0.0 3.18334E-06
2962 81 A/D 166 rs1234280033 0.0907 None gnomAD-2.1.1 4.02E-06
2962 81 A/D 166 rs1234280033 0.0907 None gnomAD-4.0.0 1.59199E-06
2962 81 A/P 166 rs765523736 0.0907 None gnomAD-2.1.1 3.88594E-04
2962 81 A/P 166 rs765523736 0.0907 None gnomAD-4.0.0 8.22534E-06
2962 81 A/T 166 rs765523736 0.0907 None gnomAD-4.0.0 4.7976E-06
2962 81 A/V 166 None 0.0907 None gnomAD-4.0.0 1.59199E-06
2963 82 T/A 168 None 0.3279 None gnomAD-4.0.0 6.93105E-07
2963 82 T/I 168 rs1442214623 0.3279 None gnomAD-2.1.1 4.02E-06
2963 82 T/I 168 rs1442214623 0.3279 None gnomAD-4.0.0 1.59198E-06
2963 82 T/P 168 rs200875815 0.3279 None 1000 genomes 2.15455E-01
2963 82 T/S 168 None 0.3279 None gnomAD-4.0.0 6.93105E-07
2965 84 T/K 171 rs1221486073 0.2636 None gnomAD-4.0.0 4.10926E-06
2966 85 V/I 172 None 0.0878 None gnomAD-4.0.0 1.20062E-06
2967 86 T/A 176 rs1287851348 0.4798 None gnomAD-2.1.1 4.02E-06
2967 86 T/A 176 rs1287851348 0.4798 None gnomAD-4.0.0 1.59186E-06
2967 86 T/I 176 rs764554139 0.4798 None gnomAD-2.1.1 4.02E-06
2967 86 T/I 176 rs764554139 0.4798 None gnomAD-4.0.0 8.21399E-06