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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
2797 3 I/S 3 rs1561222466 0.2440 None gnomAD-4.0.0 6.84065E-07
2797 3 I/T 3 rs1561222466 0.2440 None gnomAD-4.0.0 6.84065E-07
2798 4 I/L 4 None 0.5456 None gnomAD-4.0.0 1.20032E-06
2798 4 I/T 4 rs751135365 0.5456 None gnomAD-2.1.1 3.99E-06
2798 4 I/T 4 rs751135365 0.5456 None gnomAD-4.0.0 1.36813E-06
2799 5 K/I 5 None 0.4122 None gnomAD-4.0.0 6.84062E-07
2799 5 K/Q 5 None 0.4122 None gnomAD-4.0.0 1.59047E-06
2799 5 K/R 5 None 0.4122 None gnomAD-4.0.0 6.84062E-07
2800 6 K/R 7 None 0.6711 None gnomAD-4.0.0 1.59048E-06
2801 7 P/Q 8 None 0.1870 None gnomAD-4.0.0 1.59049E-06
2802 8 K/E 9 rs1294814423 0.8881 None gnomAD-2.1.1 3.99E-06
2802 8 K/E 9 rs1294814423 0.8881 None gnomAD-4.0.0 1.59049E-06
2803 9 D/N 11 rs1457989871 0.4196 None gnomAD-2.1.1 3.99E-06
2803 9 D/N 11 rs1457989871 0.4196 None gnomAD-4.0.0 1.20032E-06
2806 12 A/V 16 None 0.1912 None gnomAD-4.0.0 1.20032E-06
2808 14 E/K 23 rs2154342769 0.5237 None gnomAD-4.0.0 1.59048E-06
2809 15 N/K 24 rs762595856 0.6561 None gnomAD-2.1.1 3.99E-06
2809 15 N/K 24 rs762595856 0.6561 None gnomAD-4.0.0 1.59048E-06
2810 16 A/G 25 rs1431193511 0.2195 None gnomAD-2.1.1 3.99E-06
2810 16 A/G 25 rs1431193511 0.2195 None gnomAD-4.0.0 3.18097E-06
2810 16 A/V 25 None 0.2195 None gnomAD-4.0.0 3.18097E-06
2811 17 T/A 26 rs1574566372 0.4629 None gnomAD-4.0.0 1.59047E-06
2812 18 V/I 28 None 0.2141 None gnomAD-4.0.0 1.36812E-06
2812 18 V/L 28 rs146636599 0.2141 None gnomAD-2.1.1 9.56E-05
2812 18 V/L 28 rs146636599 0.2141 None gnomAD-3.1.2 1.44575E-04
2812 18 V/L 28 rs146636599 0.2141 None gnomAD-4.0.0 4.39862E-05
2816 22 V/I 33 None 0.1131 None gnomAD-4.0.0 1.20032E-06
2820 26 H/R 41 rs794729581 0.5565 None gnomAD-2.1.1 3.18E-05
2820 26 H/R 41 rs794729581 0.5565 None gnomAD-3.1.2 1.97E-05
2820 26 H/R 41 rs794729581 0.5565 None gnomAD-4.0.0 6.81517E-06
2821 27 D/E 42 None 0.4102 None gnomAD-4.0.0 1.59048E-06
2821 27 D/Y 42 None 0.4102 None gnomAD-4.0.0 1.59049E-06
2822 28 T/I 43 None 0.8798 None gnomAD-4.0.0 1.36814E-06
2823 29 V/F 44 rs33917087 0.2585 None gnomAD-2.1.1 1.45513E-02
2823 29 V/F 44 rs33917087 0.2585 None gnomAD-3.1.2 1.55706E-02
2823 29 V/F 44 rs33917087 0.2585 None 1000 genomes 7.58786E-03
2823 29 V/F 44 rs33917087 0.2585 None gnomAD-4.0.0 1.85661E-02
2825 31 V/I 46 rs776670775 0.2295 None gnomAD-2.1.1 3.98E-06
2825 31 V/I 46 rs776670775 0.2295 None gnomAD-4.0.0 6.84067E-07
2825 31 V/L 46 None 0.2295 None gnomAD-4.0.0 2.73627E-06
2827 33 W/C 48 None 0.1486 None gnomAD-4.0.0 1.20032E-06
2827 33 W/L 48 None 0.1486 None gnomAD-4.0.0 2.40064E-06
2829 35 H/L 50 rs1272480712 0.1755 None gnomAD-2.1.1 3.98E-06
2829 35 H/L 50 rs1272480712 0.1755 None gnomAD-4.0.0 1.02609E-05
2829 35 H/R 50 None 0.1755 None gnomAD-4.0.0 6.84063E-07
2830 36 K/N 51 rs768672643 0.4940 None gnomAD-2.1.1 3.18E-05
2831 37 S/N 52 rs2306636 0.7976 None gnomAD-2.1.1 7.91051E-02
2831 37 S/N 52 rs2306636 0.7976 None gnomAD-3.1.2 5.16731E-02
2831 37 S/N 52 rs2306636 0.7976 None 1000 genomes 8.127E-02
2831 37 S/N 52 rs2306636 0.7976 None gnomAD-4.0.0 5.47099E-02
2832 38 V/L 55 rs375549179 0.6171 None gnomAD-2.1.1 1.42E-05
2832 38 V/L 55 rs375549179 0.6171 None gnomAD-3.1.2 3.94E-05
2832 38 V/L 55 rs375549179 0.6171 None gnomAD-4.0.0 1.34446E-04
2833 39 E/G 56 None 0.3141 None gnomAD-4.0.0 1.20032E-06
2836 42 P/L 70 rs1310170063 0.6343 None gnomAD-2.1.1 3.98E-06
2836 42 P/L 70 rs1310170063 0.6343 None gnomAD-4.0.0 1.59046E-06
2836 42 P/R 70 rs1310170063 0.6343 None gnomAD-4.0.0 3.18092E-06
2836 42 P/T 70 rs772547332 0.6343 None gnomAD-2.1.1 7.08E-06
2837 43 S/C 73 rs202024134 0.2703 None gnomAD-2.1.1 4.78E-05
2837 43 S/C 73 rs202024134 0.2703 None gnomAD-3.1.2 1.97E-05
2837 43 S/C 73 rs202024134 0.2703 None gnomAD-4.0.0 4.22571E-05
2837 43 S/G 73 rs202024134 0.2703 None gnomAD-2.1.1 3.98E-06
2837 43 S/G 73 rs202024134 0.2703 None gnomAD-4.0.0 3.18094E-06
2837 43 S/R 73 rs1166608062 0.2703 None gnomAD-3.1.2 6.57E-06
2837 43 S/R 73 rs1166608062 0.2703 None gnomAD-4.0.0 6.19566E-06
2840 46 H/R 121 None 0.3178 None gnomAD-4.0.0 1.20032E-06
2841 47 R/K 122 rs779603870 0.6538 None gnomAD-2.1.1 3.98E-06
2841 47 R/K 122 rs779603870 0.6538 None gnomAD-4.0.0 1.36812E-06
2842 48 L/P 123 rs771546584 0.3542 None gnomAD-2.1.1 3.18E-05
2842 48 L/P 123 rs771546584 0.3542 None gnomAD-3.1.2 1.97E-05
2842 48 L/P 123 rs771546584 0.3542 None gnomAD-4.0.0 8.67324E-06
2843 49 V/G 125 None 0.3332 None gnomAD-4.0.0 1.59046E-06
2844 50 S/L 127 rs2091265064 0.5211 None gnomAD-3.1.2 6.57E-06
2844 50 S/L 127 rs2091265064 0.5211 None gnomAD-4.0.0 6.57315E-06
2846 52 R/K 131 rs1658158334 0.7443 None gnomAD-3.1.2 6.57E-06
2846 52 R/K 131 rs1658158334 0.7443 None gnomAD-4.0.0 2.02991E-06
2847 53 K/E 134 rs794729582 0.2377 None gnomAD-2.1.1 3.98E-06
2847 53 K/E 134 rs794729582 0.2377 None gnomAD-4.0.0 2.73624E-06
2848 54 V/L 135 None 0.2392 None gnomAD-4.0.0 1.59046E-06
2849 55 H/N 136 None 0.1745 None gnomAD-4.0.0 1.59046E-06
2849 55 H/Q 136 rs2091263013 0.1745 None gnomAD-4.0.0 1.59045E-06
2850 56 K/R 137 rs1396734796 0.2789 None gnomAD-2.1.1 3.98E-06
2850 56 K/R 137 rs1396734796 0.2789 None gnomAD-4.0.0 1.59045E-06
2852 58 M/I 139 rs1464875201 0.3868 None gnomAD-2.1.1 7.96E-06
2852 58 M/I 139 rs1464875201 0.3868 None gnomAD-3.1.2 6.57E-06
2852 58 M/I 139 rs1464875201 0.3868 None gnomAD-4.0.0 2.56108E-06
2852 58 M/K 139 None 0.3868 None gnomAD-4.0.0 2.40064E-06
2852 58 M/V 139 rs1382675661 0.3868 None gnomAD-2.1.1 3.18E-05
2852 58 M/V 139 rs1382675661 0.3868 None gnomAD-3.1.2 6.57E-06
2852 58 M/V 139 rs1382675661 0.3868 None gnomAD-4.0.0 2.0298E-06
2853 59 L/V 140 rs1379690495 0.1319 None gnomAD-2.1.1 3.98E-06
2853 59 L/V 140 rs1379690495 0.1319 None gnomAD-4.0.0 1.59047E-06
2854 60 Q/H 141 None 0.5211 None gnomAD-4.0.0 6.84063E-07
2854 60 Q/R 141 rs750346528 0.5211 None gnomAD-4.0.0 1.59047E-06
2856 62 I/V 144 rs1387078141 0.1011 None gnomAD-2.1.1 3.18E-05
2856 62 I/V 144 rs1387078141 0.1011 None gnomAD-3.1.2 6.57E-06
2856 62 I/V 144 rs1387078141 0.1011 None gnomAD-4.0.0 5.12232E-06
2857 63 S/C 145 rs1003498795 0.1962 None gnomAD-3.1.2 6.57E-06
2857 63 S/C 145 rs1003498795 0.1962 None gnomAD-4.0.0 1.23913E-06
2857 63 S/F 145 rs1003498795 0.1962 None gnomAD-4.0.0 1.36813E-06
2857 63 S/Y 145 None 0.1962 None gnomAD-4.0.0 4.78845E-06
2858 64 P/L 146 rs370094744 0.5761 None gnomAD-2.1.1 1.42E-05
2858 64 P/L 146 rs370094744 0.5761 None gnomAD-3.1.2 2.63E-05
2858 64 P/L 146 rs370094744 0.5761 None gnomAD-4.0.0 7.435E-06
2858 64 P/R 146 rs370094744 0.5761 None gnomAD-4.0.0 6.84067E-07
2859 65 S/A 148 None 0.4747 None gnomAD-4.0.0 2.40065E-06
2860 66 D/H 149 rs2091257509 0.2100 None gnomAD-3.1.2 1.31E-05
2860 66 D/H 149 rs2091257509 0.2100 None gnomAD-4.0.0 3.04486E-06
2861 67 A/S 151 rs1383547916 0.2840 None gnomAD-3.1.2 1.31E-05
2861 67 A/S 151 rs1383547916 0.2840 None gnomAD-4.0.0 4.05965E-06
2862 68 G/R 152 None 0.2597 None gnomAD-4.0.0 1.59048E-06
2865 71 T/I 155 rs2091254998 0.1766 None gnomAD-4.0.0 2.05219E-06
2865 71 T/R 155 None 0.1766 None gnomAD-4.0.0 6.84064E-07
2866 72 A/T 156 rs147174853 0.0967 None gnomAD-2.1.1 1.59E-05
2866 72 A/T 156 rs147174853 0.0967 None gnomAD-3.1.2 1.97E-05
2866 72 A/T 156 rs147174853 0.0967 None 1000 genomes 1.99681E-04
2866 72 A/T 156 rs147174853 0.0967 None gnomAD-4.0.0 3.71718E-06
2867 73 V/M 157 None 0.2453 None gnomAD-4.0.0 1.20032E-06
2868 74 V/A 158 rs765207321 0.1831 None gnomAD-2.1.1 3.98E-06
2868 74 V/A 158 rs765207321 0.1831 None gnomAD-4.0.0 3.18094E-06
2869 75 G/R 164 rs764173950 0.5238 None gnomAD-2.1.1 2.48E-05
2869 75 G/R 164 rs764173950 0.5238 None gnomAD-3.1.2 1.31E-05
2869 75 G/R 164 rs764173950 0.5238 None gnomAD-4.0.0 8.0546E-06
2869 75 G/V 164 None 0.5238 None gnomAD-4.0.0 1.59046E-06
2870 76 Q/K 165 None 1.0634 None gnomAD-4.0.0 1.59047E-06
2870 76 Q/L 165 rs372008728 1.0634 None gnomAD-2.1.1 7.96E-06
2870 76 Q/L 165 rs372008728 1.0634 None gnomAD-3.1.2 6.57E-06
2870 76 Q/L 165 rs372008728 1.0634 None gnomAD-4.0.0 2.47824E-06
2871 77 L/F 166 None 0.4792 None gnomAD-4.0.0 1.59046E-06
2871 77 L/M 166 None 0.4792 None gnomAD-4.0.0 1.59046E-06
2873 79 C/G 169 None 0.1585 None gnomAD-4.0.0 2.05218E-06
2875 81 A/T 172 rs2091251469 0.1035 None gnomAD-4.0.0 1.20032E-06
2876 82 K/E 173 None 0.4197 None gnomAD-4.0.0 6.84061E-07
2876 82 K/Q 173 None 0.4197 None gnomAD-4.0.0 6.84061E-07
2877 83 L/R 174 None 0.1110 None gnomAD-4.0.0 1.20032E-06
2878 84 F/I 175 rs2091250841 0.5052 None gnomAD-3.1.2 6.57E-06
2878 84 F/I 175 rs2091250841 0.5052 None gnomAD-4.0.0 2.56115E-06
2878 84 F/L 175 None 0.5052 None gnomAD-4.0.0 1.59047E-06
2878 84 F/S 175 rs2091250535 0.5052 None gnomAD-4.0.0 1.36813E-06
2879 85 V/A 177 None 0.2824 None gnomAD-4.0.0 1.59047E-06