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

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

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 0.3207 None gnomAD-2.1.1 3.18E-05
2820 26 H/R 41 rs794729581 0.3207 None gnomAD-3.1.2 1.97E-05
2820 26 H/R 41 rs794729581 0.3207 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 0.7644 None gnomAD-4.0.0 1.36814E-06
2823 29 V/F 44 rs33917087 0.2305 None gnomAD-2.1.1 1.45513E-02
2823 29 V/F 44 rs33917087 0.2305 None gnomAD-3.1.2 1.55706E-02
2823 29 V/F 44 rs33917087 0.2305 None 1000 genomes 7.58786E-03
2823 29 V/F 44 rs33917087 0.2305 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 0.4817 None gnomAD-2.1.1 2.48E-05
2869 75 G/R 164 rs764173950 0.4817 None gnomAD-3.1.2 1.31E-05
2869 75 G/R 164 rs764173950 0.4817 None gnomAD-4.0.0 8.0546E-06
2869 75 G/V 164 None 0.4817 None gnomAD-4.0.0 1.59046E-06
2870 76 Q/K 165 None 0.8920 None gnomAD-4.0.0 1.59047E-06
2870 76 Q/L 165 rs372008728 0.8920 None gnomAD-2.1.1 7.96E-06
2870 76 Q/L 165 rs372008728 0.8920 None gnomAD-3.1.2 6.57E-06
2870 76 Q/L 165 rs372008728 0.8920 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