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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
P R F V S K L N S L T V V A G E P A E L Q A S I E G A Q P I F V Q W L K E K E E V I R E S E N I R I T F V E N V A T L Q F A K A E P A N A G K Y I C Q I K N D G G M R E N M A T L M V L E P A V I V E K A G P M T V T V G E T C T L E C K V A G T P E L S V E W Y K D G K L L T S S Q K H K F S F Y N K I S S L R I L S V E R Q D A G T Y T F Q V Q N N V G K S S C T A V V D V S
P R F V S K L N S L T V V A G E P A E L Q A S I E G A Q P I F V Q W L K E K E E V I R E S E N I R I T F V E N V A T L Q F A K A E P A N A G K Y I C Q I K N D G G M R E N M A T L M 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
6855 2 R/G 2 None 0.3698 None gnomAD-4.0.0 6.99796E-07
6855 2 R/I 2 rs1231976753 0.3698 None gnomAD-2.1.1 8.97E-06
6855 2 R/I 2 rs1231976753 0.3698 None gnomAD-3.1.2 6.57E-06
6855 2 R/I 2 rs1231976753 0.3698 None gnomAD-4.0.0 3.16376E-06
6855 2 R/S 2 rs2079210485 0.3698 None gnomAD-4.0.0 1.39989E-06
6856 3 F/V 3 None 0.2031 None gnomAD-4.0.0 6.98616E-07
6858 5 S/F 5 rs1031134000 0.3381 None gnomAD-4.0.0 6.27089E-06
6859 6 K/Q 7 None 0.9481 None gnomAD-4.0.0 1.65812E-06
6859 6 K/R 7 None 0.9481 None gnomAD-4.0.0 1.65636E-06
6860 7 L/P 8 rs767944090 0.1507 None gnomAD-2.1.1 2.17E-05
6860 7 L/P 8 rs767944090 0.1507 None gnomAD-3.1.2 6.57E-06
6860 7 L/P 8 rs767944090 0.1507 None gnomAD-4.0.0 8.1682E-06
6860 7 L/R 8 rs767944090 0.1507 None gnomAD-2.1.1 4.34E-06
6860 7 L/R 8 rs767944090 0.1507 None gnomAD-4.0.0 2.08422E-06
6861 8 N/H 9 rs2079209158 0.7975 None gnomAD-4.0.0 1.6431E-06
6861 8 N/K 9 rs760063480 0.7975 None gnomAD-4.0.0 6.94043E-07
6862 9 S/G 11 rs772654281 0.4464 None gnomAD-2.1.1 4.74E-05
6862 9 S/G 11 rs772654281 0.4464 None gnomAD-3.1.2 6.57E-06
6862 9 S/G 11 rs772654281 0.4464 None gnomAD-4.0.0 1.69431E-05
6862 9 S/N 11 rs764794977 0.4464 None gnomAD-2.1.1 4.26E-06
6862 9 S/N 11 rs764794977 0.4464 None gnomAD-4.0.0 1.3851E-06
6862 9 S/T 11 rs764794977 0.4464 None gnomAD-2.1.1 4.26E-06
6862 9 S/T 11 rs764794977 0.4464 None gnomAD-4.0.0 6.9255E-07
6865 12 V/F 16 None 0.1615 None gnomAD-4.0.0 6.88996E-07
6865 12 V/I 16 rs2154304381 0.1615 None gnomAD-4.0.0 6.88996E-07
6866 13 V/I 18 None 0.3455 None gnomAD-4.0.0 1.60772E-06
6867 14 A/S 23 rs761337704 0.2637 None gnomAD-2.1.1 8.23E-06
6867 14 A/S 23 rs761337704 0.2637 None gnomAD-3.1.2 6.58E-06
6867 14 A/S 23 rs761337704 0.2637 None gnomAD-4.0.0 3.87215E-06
6867 14 A/V 23 rs368458114 0.2637 None gnomAD-4.0.0 3.43327E-06
6868 15 G/R 24 rs17355460 0.3056 None gnomAD-2.1.1 1.16434E-02
6868 15 G/R 24 rs17355460 0.3056 None gnomAD-3.1.2 1.16343E-02
6868 15 G/R 24 rs17355460 0.3056 None 1000 genomes 6.58946E-03
6868 15 G/R 24 rs17355460 0.3056 None gnomAD-4.0.0 1.57669E-02
6869 16 E/K 25 rs746830456 0.4847 None gnomAD-2.1.1 1.22E-05
6869 16 E/K 25 rs746830456 0.4847 None gnomAD-3.1.2 6.58E-06
6869 16 E/K 25 rs746830456 0.4847 None gnomAD-4.0.0 7.45328E-06
6869 16 E/Q 25 rs746830456 0.4847 None gnomAD-4.0.0 6.85897E-07
6870 17 P/A 26 None 0.5659 None gnomAD-4.0.0 1.59995E-06
6871 18 A/T 28 rs745807060 0.1473 None gnomAD-2.1.1 4.07E-06
6871 18 A/T 28 rs745807060 0.1473 None gnomAD-3.1.2 6.57E-06
6871 18 A/T 28 rs745807060 0.1473 None gnomAD-4.0.0 2.57169E-06
6872 19 E/K 29 rs376378443 0.3409 None gnomAD-2.1.1 1.8E-05
6872 19 E/K 29 rs376378443 0.3409 None gnomAD-3.1.2 5.92E-05
6872 19 E/K 29 rs376378443 0.3409 None gnomAD-4.0.0 8.06738E-06
6874 21 Q/H 31 None 0.4992 None gnomAD-4.0.0 1.5949E-06
6874 21 Q/R 31 rs749312103 0.4992 None gnomAD-2.1.1 4.05E-06
6874 21 Q/R 31 rs749312103 0.4992 None gnomAD-4.0.0 1.36994E-06
6875 22 A/T 33 rs756292622 0.1250 None gnomAD-2.1.1 4.05E-06
6875 22 A/T 33 rs756292622 0.1250 None gnomAD-4.0.0 2.05493E-06
6875 22 A/V 33 rs199875225 0.1250 None gnomAD-4.0.0 1.59542E-06
6876 23 S/T 34 rs1359024577 0.2980 None gnomAD-2.1.1 4.04E-06
6876 23 S/T 34 rs1359024577 0.2980 None gnomAD-4.0.0 4.1089E-06
6877 24 I/L 35 None 0.1006 None gnomAD-4.0.0 2.73887E-06
6877 24 I/M 35 rs1227070261 0.1006 None gnomAD-2.1.1 4.04E-06
6877 24 I/T 35 rs142794598 0.1006 None gnomAD-2.1.1 3.5868E-04
6877 24 I/T 35 rs142794598 0.1006 None gnomAD-3.1.2 1.01932E-03
6877 24 I/T 35 rs142794598 0.1006 None 1000 genomes 1.99681E-03
6877 24 I/T 35 rs142794598 0.1006 None gnomAD-4.0.0 1.80456E-04
6877 24 I/V 35 rs1023569847 0.1006 None gnomAD-4.0.0 1.36944E-06
6878 25 E/A 38 rs752107739 0.3945 None gnomAD-2.1.1 4.04E-06
6878 25 E/A 38 rs752107739 0.3945 None gnomAD-3.1.2 1.31E-05
6878 25 E/A 38 rs752107739 0.3945 None gnomAD-4.0.0 1.66744E-05
6878 25 E/Q 38 rs755499713 0.3945 None gnomAD-2.1.1 4.04E-06
6878 25 E/Q 38 rs755499713 0.3945 None gnomAD-4.0.0 1.59421E-06
6879 26 G/D 40 rs370099653 0.4229 None gnomAD-3.1.2 6.58E-06
6879 26 G/D 40 rs370099653 0.4229 None gnomAD-4.0.0 4.06019E-06
6880 27 A/S 41 None 0.6206 None gnomAD-4.0.0 6.84628E-07
6880 27 A/T 41 rs753356990 0.6206 None gnomAD-2.1.1 1.79E-05
6880 27 A/T 41 rs753356990 0.6206 None gnomAD-3.1.2 1.97E-05
6880 27 A/T 41 rs753356990 0.6206 None gnomAD-4.0.0 1.24013E-05
6880 27 A/V 41 rs763878064 0.6206 None gnomAD-2.1.1 1.21E-05
6880 27 A/V 41 rs763878064 0.6206 None gnomAD-4.0.0 6.16116E-06
6881 28 Q/L 42 None 0.4388 None gnomAD-4.0.0 2.73805E-06
6882 29 P/L 43 rs1299399084 0.4544 None gnomAD-2.1.1 3.18E-05
6882 29 P/L 43 rs1299399084 0.4544 None gnomAD-3.1.2 6.58E-06
6882 29 P/L 43 rs1299399084 0.4544 None gnomAD-4.0.0 6.57644E-06
6883 30 I/M 44 rs2079192299 0.0966 None gnomAD-4.0.0 1.59266E-06
6883 30 I/S 44 rs1392708886 0.0966 None gnomAD-4.0.0 1.36891E-06
6883 30 I/T 44 None 0.0966 None gnomAD-4.0.0 6.84454E-07
6883 30 I/V 44 None 0.0966 None gnomAD-4.0.0 1.59273E-06
6884 31 F/L 45 None 0.4862 None gnomAD-4.0.0 1.59276E-06
6885 32 V/I 46 rs2079191317 0.2868 None gnomAD-3.1.2 6.58E-06
6885 32 V/I 46 rs2079191317 0.2868 None gnomAD-4.0.0 6.57609E-06
6886 33 Q/P 47 None 0.4284 None gnomAD-4.0.0 6.84516E-07
6886 33 Q/R 47 None 0.4284 None gnomAD-4.0.0 6.84516E-07
6889 36 K/E 50 rs373348905 0.2285 None gnomAD-2.1.1 4.03E-06
6889 36 K/E 50 rs373348905 0.2285 None gnomAD-4.0.0 1.59257E-06
6889 36 K/N 50 None 0.2285 None gnomAD-4.0.0 1.20033E-06
6889 36 K/Q 50 rs373348905 0.2285 None gnomAD-3.1.2 6.57E-06
6889 36 K/Q 50 rs373348905 0.2285 None gnomAD-4.0.0 6.57177E-06
6889 36 K/T 50 None 0.2285 None gnomAD-4.0.0 1.59263E-06
6890 37 E/K 51 None 0.3499 None gnomAD-4.0.0 1.20032E-06
6891 38 K/R 52 None 0.7874 None gnomAD-4.0.0 3.18539E-06
6892 39 E/K 55 rs185833299 0.9145 None gnomAD-2.1.1 2.14E-05
6892 39 E/K 55 rs185833299 0.9145 None gnomAD-3.1.2 3.29E-05
6892 39 E/K 55 rs185833299 0.9145 None 1000 genomes 1.99681E-04
6892 39 E/K 55 rs185833299 0.9145 None gnomAD-4.0.0 7.43852E-06
6893 40 E/G 56 rs2079188744 0.4191 None gnomAD-3.1.2 6.57E-06
6893 40 E/G 56 rs2079188744 0.4191 None gnomAD-4.0.0 6.57194E-06
6894 41 V/E 57 rs770809224 0.4614 None gnomAD-2.1.1 4.03E-06
6894 41 V/G 57 None 0.4614 None gnomAD-4.0.0 1.59268E-06
6894 41 V/L 57 rs774362265 0.4614 None gnomAD-2.1.1 4.03E-06
6894 41 V/L 57 rs774362265 0.4614 None gnomAD-3.1.2 1.97E-05
6894 41 V/L 57 rs774362265 0.4614 None gnomAD-4.0.0 1.67373E-05
6895 42 I/S 58 rs2079186805 0.1744 None gnomAD-3.1.2 6.57E-06
6895 42 I/S 58 rs2079186805 0.1744 None gnomAD-4.0.0 6.57471E-06
6895 42 I/V 58 rs749405543 0.1744 None gnomAD-2.1.1 4.02E-06
6895 42 I/V 58 rs749405543 0.1744 None gnomAD-4.0.0 1.59248E-06
6896 43 R/K 59 rs1026814261 0.8014 None gnomAD-4.0.0 3.42217E-06
6896 43 R/S 59 None 0.8014 None gnomAD-4.0.0 1.59236E-06
6897 44 E/D 70 None 0.4798 None gnomAD-4.0.0 1.36881E-06
6898 45 S/G 73 rs878854291 0.3285 None gnomAD-3.1.2 1.31E-05
6898 45 S/G 73 rs878854291 0.3285 None gnomAD-4.0.0 8.05822E-06
6898 45 S/R 73 rs878854291 0.3285 None gnomAD-4.0.0 1.59237E-06
6899 46 E/G 111 rs777803266 1.1271 None gnomAD-2.1.1 4.02E-06
6899 46 E/G 111 rs777803266 1.1271 None gnomAD-3.1.2 6.57E-06
6899 46 E/G 111 rs777803266 1.1271 None gnomAD-4.0.0 3.8452E-06
6900 47 N/K 115 None 0.2666 None gnomAD-4.0.0 3.42199E-06
6900 47 N/S 115 rs1389235832 0.2666 None gnomAD-4.0.0 1.59226E-06
6901 48 I/M 121 rs1402912841 0.2089 None gnomAD-4.0.0 6.8441E-07
6901 48 I/T 121 rs770055282 0.2089 None gnomAD-2.1.1 5.23E-05
6901 48 I/T 121 rs770055282 0.2089 None gnomAD-3.1.2 1.31E-05
6901 48 I/T 121 rs770055282 0.2089 None gnomAD-4.0.0 2.6034E-05
6901 48 I/V 121 None 0.2089 None gnomAD-4.0.0 1.59219E-06
6902 49 R/K 122 None 0.6193 None gnomAD-4.0.0 1.20032E-06
6902 49 R/M 122 rs2079182473 0.6193 None gnomAD-3.1.2 6.57E-06
6902 49 R/M 122 rs2079182473 0.6193 None gnomAD-4.0.0 6.57324E-06
6903 50 I/V 123 rs571675433 0.2341 None gnomAD-2.1.1 3.62E-05
6903 50 I/V 123 rs571675433 0.2341 None gnomAD-3.1.2 1.97E-05
6903 50 I/V 123 rs571675433 0.2341 None 1000 genomes 3.99361E-04
6903 50 I/V 123 rs571675433 0.2341 None gnomAD-4.0.0 1.73539E-05
6905 52 F/L 127 rs781202077 0.2954 None gnomAD-2.1.1 8.05E-06
6905 52 F/L 127 rs781202077 0.2954 None gnomAD-4.0.0 1.59238E-06
6906 53 V/A 130 rs1560728367 0.6180 None gnomAD-2.1.1 4.02E-06
6906 53 V/A 130 rs1560728367 0.6180 None gnomAD-4.0.0 1.20032E-06
6906 53 V/E 130 None 0.6180 None gnomAD-4.0.0 2.40064E-06
6906 53 V/L 130 None 0.6180 None gnomAD-4.0.0 1.20032E-06
6907 54 E/Q 131 None 0.8914 None gnomAD-4.0.0 1.59251E-06
6908 55 N/S 134 rs755380607 0.4329 None gnomAD-2.1.1 8.05E-06
6908 55 N/S 134 rs755380607 0.4329 None gnomAD-3.1.2 1.31E-05
6908 55 N/S 134 rs755380607 0.4329 None gnomAD-4.0.0 1.85964E-06
6908 55 N/T 134 None 0.4329 None gnomAD-4.0.0 1.36889E-06
6909 56 V/D 135 rs1316718244 0.2843 None gnomAD-3.1.2 6.57E-06
6909 56 V/D 135 rs1316718244 0.2843 None gnomAD-4.0.0 6.57255E-06
6910 57 A/V 136 rs2079177597 0.0936 None gnomAD-3.1.2 6.57E-06
6910 57 A/V 136 rs2079177597 0.0936 None gnomAD-4.0.0 6.57333E-06
6911 58 T/A 137 None 0.1526 None gnomAD-4.0.0 1.59258E-06
6911 58 T/P 137 None 0.1526 None gnomAD-4.0.0 3.18516E-06
6912 59 L/I 138 rs879042542 0.0735 None gnomAD-2.1.1 3.19E-05
6912 59 L/I 138 rs879042542 0.0735 None gnomAD-3.1.2 2.63E-05
6912 59 L/P 138 rs780735199 0.0735 None gnomAD-2.1.1 3.18E-05
6912 59 L/P 138 rs780735199 0.0735 None gnomAD-3.1.2 6.57E-06
6912 59 L/P 138 rs780735199 0.0735 None gnomAD-4.0.0 2.56391E-06
6913 60 Q/H 139 None 0.3859 None gnomAD-4.0.0 1.59294E-06
6913 60 Q/R 139 rs1352796608 0.3859 None gnomAD-3.1.2 6.57E-06
6913 60 Q/R 139 rs1352796608 0.3859 None gnomAD-4.0.0 2.56397E-06
6914 61 F/L 140 rs397517495 0.1300 None gnomAD-2.1.1 4.03E-06
6914 61 F/L 140 rs397517495 0.1300 None gnomAD-3.1.2 1.31E-05
6914 61 F/L 140 rs397517495 0.1300 None gnomAD-4.0.0 1.36396E-05
6915 62 A/E 141 None 0.3573 None gnomAD-4.0.0 1.20032E-06
6915 62 A/S 141 rs201728165 0.3573 None gnomAD-2.1.1 1.14515E-04
6915 62 A/S 141 rs201728165 0.3573 None gnomAD-3.1.2 3.74596E-04
6915 62 A/S 141 rs201728165 0.3573 None 1000 genomes 5.99042E-04
6915 62 A/S 141 rs201728165 0.3573 None gnomAD-4.0.0 6.19987E-05
6916 63 K/N 143 None 0.6725 None gnomAD-4.0.0 4.80129E-06
6918 65 E/K 145 None 0.4560 None gnomAD-4.0.0 1.59341E-06
6919 66 P/L 146 None 0.4897 None gnomAD-4.0.0 1.59365E-06
6920 67 A/T 148 None 0.5118 None gnomAD-4.0.0 1.59388E-06
6920 67 A/V 148 rs886042589 0.5118 None gnomAD-2.1.1 8.07E-06
6920 67 A/V 148 rs886042589 0.5118 None gnomAD-3.1.2 6.57E-06
6920 67 A/V 148 rs886042589 0.5118 None gnomAD-4.0.0 2.56559E-06
6921 68 N/S 149 None 0.1938 None gnomAD-4.0.0 1.20032E-06
6923 70 G/E 152 rs753447017 0.1991 None gnomAD-2.1.1 3.18E-05
6923 70 G/E 152 rs753447017 0.1991 None gnomAD-3.1.2 6.57E-06
6923 70 G/E 152 rs753447017 0.1991 None gnomAD-4.0.0 6.57056E-06
6924 71 K/N 153 rs369993514 0.3967 None gnomAD-4.0.0 6.8523E-07
6924 71 K/T 153 None 0.3967 None gnomAD-4.0.0 5.48061E-06
6926 73 I/T 155 rs1430184680 0.1535 None gnomAD-2.1.1 4.06E-06
6926 73 I/T 155 rs1430184680 0.1535 None gnomAD-4.0.0 2.74155E-06
6926 73 I/V 155 rs752400157 0.1535 None gnomAD-2.1.1 4.05E-06
6926 73 I/V 155 rs752400157 0.1535 None gnomAD-4.0.0 1.59728E-06
6927 74 C/R 156 rs767021612 0.0751 None gnomAD-2.1.1 4.06E-06
6930 77 K/E 159 None 0.4891 None gnomAD-4.0.0 1.60563E-06
6931 78 N/S 161 rs200866883 0.1997 None gnomAD-2.1.1 2.19215E-04
6931 78 N/S 161 rs200866883 0.1997 None gnomAD-3.1.2 2.49668E-04
6931 78 N/S 161 rs200866883 0.1997 None 1000 genomes 1.99681E-04
6931 78 N/S 161 rs200866883 0.1997 None gnomAD-4.0.0 3.38553E-04
6933 80 G/A 163 rs200118743 0.7022 None gnomAD-2.1.1 6.08512E-04
6933 80 G/A 163 rs200118743 0.7022 None gnomAD-3.1.2 6.04452E-04
6933 80 G/A 163 rs200118743 0.7022 None 1000 genomes 5.99042E-04
6933 80 G/A 163 rs200118743 0.7022 None gnomAD-4.0.0 1.2351E-03
6933 80 G/V 163 None 0.7022 None gnomAD-4.0.0 6.8928E-07
6934 81 G/R 164 rs2079167703 0.3183 None gnomAD-3.1.2 6.57E-06
6934 81 G/R 164 rs2079167703 0.3183 None gnomAD-4.0.0 5.20927E-06
6935 82 M/I 165 rs770899268 0.3629 None gnomAD-2.1.1 1.14E-05
6935 82 M/I 165 rs770899268 0.3629 None gnomAD-3.1.2 2.63E-05
6935 82 M/I 165 rs770899268 0.3629 None gnomAD-4.0.0 6.54127E-06
6936 83 R/K 166 rs1206230320 0.5061 None gnomAD-2.1.1 4.35E-06
6936 83 R/K 166 rs1206230320 0.5061 None gnomAD-4.0.0 2.77145E-06
6936 83 R/W 166 rs762861187 0.5061 None gnomAD-2.1.1 1.14E-05
6936 83 R/W 166 rs762861187 0.5061 None gnomAD-3.1.2 2.63E-05
6936 83 R/W 166 rs762861187 0.5061 None gnomAD-4.0.0 6.54822E-06
6937 84 E/K 168 None 0.4708 None gnomAD-4.0.0 1.64393E-06
6938 85 N/D 169 None 0.1725 None gnomAD-4.0.0 1.65252E-06
6938 85 N/Y 169 rs769865946 0.1725 None gnomAD-2.1.1 4.46E-06
6938 85 N/Y 169 rs769865946 0.1725 None gnomAD-3.1.2 6.57E-06
6938 85 N/Y 169 rs769865946 0.1725 None gnomAD-4.0.0 6.57065E-06
6939 86 M/I 171 rs748115880 0.3663 None gnomAD-2.1.1 4.62E-06
6939 86 M/I 171 rs748115880 0.3663 None gnomAD-4.0.0 1.6711E-06
6939 86 M/L 171 None 0.3663 None gnomAD-4.0.0 6.96892E-07
6939 86 M/T 171 None 0.3663 None gnomAD-4.0.0 1.20032E-06
6939 86 M/V 171 None 0.3663 None gnomAD-4.0.0 2.78757E-06
6940 87 A/S 172 None 0.1163 None gnomAD-4.0.0 1.67561E-06
6944 91 V/D 178 rs1278982841 0.1576 None gnomAD-2.1.1 5.17E-06
6944 91 V/D 178 rs1278982841 0.1576 None gnomAD-4.0.0 3.47205E-06
6944 91 V/F 178 rs2079162110 0.1576 None gnomAD-4.0.0 1.73095E-06