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

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
6855 2 R/G 2 None 0.3409 None gnomAD-4.0.0 6.99796E-07
6855 2 R/I 2 rs1231976753 0.3409 None gnomAD-2.1.1 8.97E-06
6855 2 R/I 2 rs1231976753 0.3409 None gnomAD-3.1.2 6.57E-06
6855 2 R/I 2 rs1231976753 0.3409 None gnomAD-4.0.0 3.16376E-06
6855 2 R/S 2 rs2079210485 0.3409 None gnomAD-4.0.0 1.39989E-06
6856 3 F/V 3 None 0.1757 None gnomAD-4.0.0 6.98616E-07
6858 5 S/F 5 rs1031134000 0.3123 None gnomAD-4.0.0 6.27089E-06
6859 6 K/Q 7 None 0.6969 None gnomAD-4.0.0 1.65812E-06
6859 6 K/R 7 None 0.6969 None gnomAD-4.0.0 1.65636E-06
6860 7 L/P 8 rs767944090 0.1428 None gnomAD-2.1.1 2.17E-05
6860 7 L/P 8 rs767944090 0.1428 None gnomAD-3.1.2 6.57E-06
6860 7 L/P 8 rs767944090 0.1428 None gnomAD-4.0.0 8.1682E-06
6860 7 L/R 8 rs767944090 0.1428 None gnomAD-2.1.1 4.34E-06
6860 7 L/R 8 rs767944090 0.1428 None gnomAD-4.0.0 2.08422E-06
6861 8 N/H 9 rs2079209158 0.8254 None gnomAD-4.0.0 1.6431E-06
6861 8 N/K 9 rs760063480 0.8254 None gnomAD-4.0.0 6.94043E-07
6862 9 S/G 11 rs772654281 0.4447 None gnomAD-2.1.1 4.74E-05
6862 9 S/G 11 rs772654281 0.4447 None gnomAD-3.1.2 6.57E-06
6862 9 S/G 11 rs772654281 0.4447 None gnomAD-4.0.0 1.69431E-05
6862 9 S/N 11 rs764794977 0.4447 None gnomAD-2.1.1 4.26E-06
6862 9 S/N 11 rs764794977 0.4447 None gnomAD-4.0.0 1.3851E-06
6862 9 S/T 11 rs764794977 0.4447 None gnomAD-2.1.1 4.26E-06
6862 9 S/T 11 rs764794977 0.4447 None gnomAD-4.0.0 6.9255E-07
6865 12 V/F 16 None 0.1395 None gnomAD-4.0.0 6.88996E-07
6865 12 V/I 16 rs2154304381 0.1395 None gnomAD-4.0.0 6.88996E-07
6866 13 V/I 18 None 0.4380 None gnomAD-4.0.0 1.60772E-06
6867 14 A/S 23 rs761337704 0.3823 None gnomAD-2.1.1 8.23E-06
6867 14 A/S 23 rs761337704 0.3823 None gnomAD-3.1.2 6.58E-06
6867 14 A/S 23 rs761337704 0.3823 None gnomAD-4.0.0 3.87215E-06
6867 14 A/V 23 rs368458114 0.3823 None gnomAD-4.0.0 3.43327E-06
6868 15 G/R 24 rs17355460 0.2911 None gnomAD-2.1.1 1.16434E-02
6868 15 G/R 24 rs17355460 0.2911 None gnomAD-3.1.2 1.16343E-02
6868 15 G/R 24 rs17355460 0.2911 None 1000 genomes 6.58946E-03
6868 15 G/R 24 rs17355460 0.2911 None gnomAD-4.0.0 1.57669E-02
6869 16 E/K 25 rs746830456 0.4281 None gnomAD-2.1.1 1.22E-05
6869 16 E/K 25 rs746830456 0.4281 None gnomAD-3.1.2 6.58E-06
6869 16 E/K 25 rs746830456 0.4281 None gnomAD-4.0.0 7.45328E-06
6869 16 E/Q 25 rs746830456 0.4281 None gnomAD-4.0.0 6.85897E-07
6870 17 P/A 26 None 0.5929 None gnomAD-4.0.0 1.59995E-06
6871 18 A/T 28 rs745807060 0.1579 None gnomAD-2.1.1 4.07E-06
6871 18 A/T 28 rs745807060 0.1579 None gnomAD-3.1.2 6.57E-06
6871 18 A/T 28 rs745807060 0.1579 None gnomAD-4.0.0 2.57169E-06
6872 19 E/K 29 rs376378443 0.3710 None gnomAD-2.1.1 1.8E-05
6872 19 E/K 29 rs376378443 0.3710 None gnomAD-3.1.2 5.92E-05
6872 19 E/K 29 rs376378443 0.3710 None gnomAD-4.0.0 8.06738E-06
6874 21 Q/H 31 None 0.5989 None gnomAD-4.0.0 1.5949E-06
6874 21 Q/R 31 rs749312103 0.5989 None gnomAD-2.1.1 4.05E-06
6874 21 Q/R 31 rs749312103 0.5989 None gnomAD-4.0.0 1.36994E-06
6875 22 A/T 33 rs756292622 0.1018 None gnomAD-2.1.1 4.05E-06
6875 22 A/T 33 rs756292622 0.1018 None gnomAD-4.0.0 2.05493E-06
6875 22 A/V 33 rs199875225 0.1018 None gnomAD-4.0.0 1.59542E-06
6876 23 S/T 34 rs1359024577 0.2170 None gnomAD-2.1.1 4.04E-06
6876 23 S/T 34 rs1359024577 0.2170 None gnomAD-4.0.0 4.1089E-06
6877 24 I/L 35 None 0.0960 None gnomAD-4.0.0 2.73887E-06
6877 24 I/M 35 rs1227070261 0.0960 None gnomAD-2.1.1 4.04E-06
6877 24 I/T 35 rs142794598 0.0960 None gnomAD-2.1.1 3.5868E-04
6877 24 I/T 35 rs142794598 0.0960 None gnomAD-3.1.2 1.01932E-03
6877 24 I/T 35 rs142794598 0.0960 None 1000 genomes 1.99681E-03
6877 24 I/T 35 rs142794598 0.0960 None gnomAD-4.0.0 1.80456E-04
6877 24 I/V 35 rs1023569847 0.0960 None gnomAD-4.0.0 1.36944E-06
6878 25 E/A 38 rs752107739 0.3996 None gnomAD-2.1.1 4.04E-06
6878 25 E/A 38 rs752107739 0.3996 None gnomAD-3.1.2 1.31E-05
6878 25 E/A 38 rs752107739 0.3996 None gnomAD-4.0.0 1.66744E-05
6878 25 E/Q 38 rs755499713 0.3996 None gnomAD-2.1.1 4.04E-06
6878 25 E/Q 38 rs755499713 0.3996 None gnomAD-4.0.0 1.59421E-06
6879 26 G/D 40 rs370099653 0.3601 None gnomAD-3.1.2 6.58E-06
6879 26 G/D 40 rs370099653 0.3601 None gnomAD-4.0.0 4.06019E-06
6880 27 A/S 41 None 0.3436 None gnomAD-4.0.0 6.84628E-07
6880 27 A/T 41 rs753356990 0.3436 None gnomAD-2.1.1 1.79E-05
6880 27 A/T 41 rs753356990 0.3436 None gnomAD-3.1.2 1.97E-05
6880 27 A/T 41 rs753356990 0.3436 None gnomAD-4.0.0 1.24013E-05
6880 27 A/V 41 rs763878064 0.3436 None gnomAD-2.1.1 1.21E-05
6880 27 A/V 41 rs763878064 0.3436 None gnomAD-4.0.0 6.16116E-06
6881 28 Q/L 42 None 0.4573 None gnomAD-4.0.0 2.73805E-06
6882 29 P/L 43 rs1299399084 0.5191 None gnomAD-2.1.1 3.18E-05
6882 29 P/L 43 rs1299399084 0.5191 None gnomAD-3.1.2 6.58E-06
6882 29 P/L 43 rs1299399084 0.5191 None gnomAD-4.0.0 6.57644E-06
6883 30 I/M 44 rs2079192299 0.1110 None gnomAD-4.0.0 1.59266E-06
6883 30 I/S 44 rs1392708886 0.1110 None gnomAD-4.0.0 1.36891E-06
6883 30 I/T 44 None 0.1110 None gnomAD-4.0.0 6.84454E-07
6883 30 I/V 44 None 0.1110 None gnomAD-4.0.0 1.59273E-06
6884 31 F/L 45 None 0.6047 None gnomAD-4.0.0 1.59276E-06
6885 32 V/I 46 rs2079191317 0.2747 None gnomAD-3.1.2 6.58E-06
6885 32 V/I 46 rs2079191317 0.2747 None gnomAD-4.0.0 6.57609E-06
6886 33 Q/P 47 None 0.4771 None gnomAD-4.0.0 6.84516E-07
6886 33 Q/R 47 None 0.4771 None gnomAD-4.0.0 6.84516E-07
6889 36 K/E 50 rs373348905 0.1650 None gnomAD-2.1.1 4.03E-06
6889 36 K/E 50 rs373348905 0.1650 None gnomAD-4.0.0 1.59257E-06
6889 36 K/N 50 None 0.1650 None gnomAD-4.0.0 1.20033E-06
6889 36 K/Q 50 rs373348905 0.1650 None gnomAD-3.1.2 6.57E-06
6889 36 K/Q 50 rs373348905 0.1650 None gnomAD-4.0.0 6.57177E-06
6889 36 K/T 50 None 0.1650 None gnomAD-4.0.0 1.59263E-06
6890 37 E/K 51 None 0.4061 None gnomAD-4.0.0 1.20032E-06
6891 38 K/R 52 None 0.7734 None gnomAD-4.0.0 3.18539E-06
6892 39 E/K 55 rs185833299 0.8081 None gnomAD-2.1.1 2.14E-05
6892 39 E/K 55 rs185833299 0.8081 None gnomAD-3.1.2 3.29E-05
6892 39 E/K 55 rs185833299 0.8081 None 1000 genomes 1.99681E-04
6892 39 E/K 55 rs185833299 0.8081 None gnomAD-4.0.0 7.43852E-06
6893 40 E/G 56 rs2079188744 0.4310 None gnomAD-3.1.2 6.57E-06
6893 40 E/G 56 rs2079188744 0.4310 None gnomAD-4.0.0 6.57194E-06
6894 41 V/E 57 rs770809224 0.4362 None gnomAD-2.1.1 4.03E-06
6894 41 V/G 57 None 0.4362 None gnomAD-4.0.0 1.59268E-06
6894 41 V/L 57 rs774362265 0.4362 None gnomAD-2.1.1 4.03E-06
6894 41 V/L 57 rs774362265 0.4362 None gnomAD-3.1.2 1.97E-05
6894 41 V/L 57 rs774362265 0.4362 None gnomAD-4.0.0 1.67373E-05
6895 42 I/S 58 rs2079186805 0.1898 None gnomAD-3.1.2 6.57E-06
6895 42 I/S 58 rs2079186805 0.1898 None gnomAD-4.0.0 6.57471E-06
6895 42 I/V 58 rs749405543 0.1898 None gnomAD-2.1.1 4.02E-06
6895 42 I/V 58 rs749405543 0.1898 None gnomAD-4.0.0 1.59248E-06
6896 43 R/K 59 rs1026814261 0.8329 None gnomAD-4.0.0 3.42217E-06
6896 43 R/S 59 None 0.8329 None gnomAD-4.0.0 1.59236E-06
6897 44 E/D 70 None 0.5153 None gnomAD-4.0.0 1.36881E-06
6898 45 S/G 73 rs878854291 0.3139 None gnomAD-3.1.2 1.31E-05
6898 45 S/G 73 rs878854291 0.3139 None gnomAD-4.0.0 8.05822E-06
6898 45 S/R 73 rs878854291 0.3139 None gnomAD-4.0.0 1.59237E-06
6899 46 E/G 111 rs777803266 1.1061 None gnomAD-2.1.1 4.02E-06
6899 46 E/G 111 rs777803266 1.1061 None gnomAD-3.1.2 6.57E-06
6899 46 E/G 111 rs777803266 1.1061 None gnomAD-4.0.0 3.8452E-06
6900 47 N/K 115 None 0.2667 None gnomAD-4.0.0 3.42199E-06
6900 47 N/S 115 rs1389235832 0.2667 None gnomAD-4.0.0 1.59226E-06
6901 48 I/M 121 rs1402912841 0.1852 None gnomAD-4.0.0 6.8441E-07
6901 48 I/T 121 rs770055282 0.1852 None gnomAD-2.1.1 5.23E-05
6901 48 I/T 121 rs770055282 0.1852 None gnomAD-3.1.2 1.31E-05
6901 48 I/T 121 rs770055282 0.1852 None gnomAD-4.0.0 2.6034E-05
6901 48 I/V 121 None 0.1852 None gnomAD-4.0.0 1.59219E-06
6902 49 R/K 122 None 0.6859 None gnomAD-4.0.0 1.20032E-06
6902 49 R/M 122 rs2079182473 0.6859 None gnomAD-3.1.2 6.57E-06
6902 49 R/M 122 rs2079182473 0.6859 None gnomAD-4.0.0 6.57324E-06
6903 50 I/V 123 rs571675433 0.2327 None gnomAD-2.1.1 3.62E-05
6903 50 I/V 123 rs571675433 0.2327 None gnomAD-3.1.2 1.97E-05
6903 50 I/V 123 rs571675433 0.2327 None 1000 genomes 3.99361E-04
6903 50 I/V 123 rs571675433 0.2327 None gnomAD-4.0.0 1.73539E-05
6905 52 F/L 127 rs781202077 0.2949 None gnomAD-2.1.1 8.05E-06
6905 52 F/L 127 rs781202077 0.2949 None gnomAD-4.0.0 1.59238E-06
6906 53 V/A 130 rs1560728367 0.6440 None gnomAD-2.1.1 4.02E-06
6906 53 V/A 130 rs1560728367 0.6440 None gnomAD-4.0.0 1.20032E-06
6906 53 V/E 130 None 0.6440 None gnomAD-4.0.0 2.40064E-06
6906 53 V/L 130 None 0.6440 None gnomAD-4.0.0 1.20032E-06
6907 54 E/Q 131 None 0.8834 None gnomAD-4.0.0 1.59251E-06
6908 55 N/S 134 rs755380607 0.4666 None gnomAD-2.1.1 8.05E-06
6908 55 N/S 134 rs755380607 0.4666 None gnomAD-3.1.2 1.31E-05
6908 55 N/S 134 rs755380607 0.4666 None gnomAD-4.0.0 1.85964E-06
6908 55 N/T 134 None 0.4666 None gnomAD-4.0.0 1.36889E-06
6909 56 V/D 135 rs1316718244 0.2915 None gnomAD-3.1.2 6.57E-06
6909 56 V/D 135 rs1316718244 0.2915 None gnomAD-4.0.0 6.57255E-06
6910 57 A/V 136 rs2079177597 0.0922 None gnomAD-3.1.2 6.57E-06
6910 57 A/V 136 rs2079177597 0.0922 None gnomAD-4.0.0 6.57333E-06
6911 58 T/A 137 None 0.1753 None gnomAD-4.0.0 1.59258E-06
6911 58 T/P 137 None 0.1753 None gnomAD-4.0.0 3.18516E-06
6912 59 L/I 138 rs879042542 0.0720 None gnomAD-2.1.1 3.19E-05
6912 59 L/I 138 rs879042542 0.0720 None gnomAD-3.1.2 2.63E-05
6912 59 L/P 138 rs780735199 0.0720 None gnomAD-2.1.1 3.18E-05
6912 59 L/P 138 rs780735199 0.0720 None gnomAD-3.1.2 6.57E-06
6912 59 L/P 138 rs780735199 0.0720 None gnomAD-4.0.0 2.56391E-06
6913 60 Q/H 139 None 0.4086 None gnomAD-4.0.0 1.59294E-06
6913 60 Q/R 139 rs1352796608 0.4086 None gnomAD-3.1.2 6.57E-06
6913 60 Q/R 139 rs1352796608 0.4086 None gnomAD-4.0.0 2.56397E-06
6914 61 F/L 140 rs397517495 0.1294 None gnomAD-2.1.1 4.03E-06
6914 61 F/L 140 rs397517495 0.1294 None gnomAD-3.1.2 1.31E-05
6914 61 F/L 140 rs397517495 0.1294 None gnomAD-4.0.0 1.36396E-05
6915 62 A/E 141 None 0.3987 None gnomAD-4.0.0 1.20032E-06
6915 62 A/S 141 rs201728165 0.3987 None gnomAD-2.1.1 1.14515E-04
6915 62 A/S 141 rs201728165 0.3987 None gnomAD-3.1.2 3.74596E-04
6915 62 A/S 141 rs201728165 0.3987 None 1000 genomes 5.99042E-04
6915 62 A/S 141 rs201728165 0.3987 None gnomAD-4.0.0 6.19987E-05
6916 63 K/N 143 None 0.5513 None gnomAD-4.0.0 4.80129E-06
6918 65 E/K 145 None 0.4513 None gnomAD-4.0.0 1.59341E-06
6919 66 P/L 146 None 0.6198 None gnomAD-4.0.0 1.59365E-06
6920 67 A/T 148 None 0.4902 None gnomAD-4.0.0 1.59388E-06
6920 67 A/V 148 rs886042589 0.4902 None gnomAD-2.1.1 8.07E-06
6920 67 A/V 148 rs886042589 0.4902 None gnomAD-3.1.2 6.57E-06
6920 67 A/V 148 rs886042589 0.4902 None gnomAD-4.0.0 2.56559E-06
6921 68 N/S 149 None 0.2098 None gnomAD-4.0.0 1.20032E-06
6923 70 G/E 152 rs753447017 0.1951 None gnomAD-2.1.1 3.18E-05
6923 70 G/E 152 rs753447017 0.1951 None gnomAD-3.1.2 6.57E-06
6923 70 G/E 152 rs753447017 0.1951 None gnomAD-4.0.0 6.57056E-06
6924 71 K/N 153 rs369993514 0.5609 None gnomAD-4.0.0 6.8523E-07
6924 71 K/T 153 None 0.5609 None gnomAD-4.0.0 5.48061E-06
6926 73 I/T 155 rs1430184680 0.1211 None gnomAD-2.1.1 4.06E-06
6926 73 I/T 155 rs1430184680 0.1211 None gnomAD-4.0.0 2.74155E-06
6926 73 I/V 155 rs752400157 0.1211 None gnomAD-2.1.1 4.05E-06
6926 73 I/V 155 rs752400157 0.1211 None gnomAD-4.0.0 1.59728E-06
6927 74 C/R 156 rs767021612 0.0671 None gnomAD-2.1.1 4.06E-06
6930 77 K/E 159 None 0.5188 None gnomAD-4.0.0 1.60563E-06
6931 78 N/S 161 rs200866883 0.1370 None gnomAD-2.1.1 2.19215E-04
6931 78 N/S 161 rs200866883 0.1370 None gnomAD-3.1.2 2.49668E-04
6931 78 N/S 161 rs200866883 0.1370 None 1000 genomes 1.99681E-04
6931 78 N/S 161 rs200866883 0.1370 None gnomAD-4.0.0 3.38553E-04
6933 80 G/A 163 rs200118743 0.2321 None gnomAD-2.1.1 6.08512E-04
6933 80 G/A 163 rs200118743 0.2321 None gnomAD-3.1.2 6.04452E-04
6933 80 G/A 163 rs200118743 0.2321 None 1000 genomes 5.99042E-04
6933 80 G/A 163 rs200118743 0.2321 None gnomAD-4.0.0 1.2351E-03
6933 80 G/V 163 None 0.2321 None gnomAD-4.0.0 6.8928E-07
6934 81 G/R 164 rs2079167703 0.1891 None gnomAD-3.1.2 6.57E-06
6934 81 G/R 164 rs2079167703 0.1891 None gnomAD-4.0.0 5.20927E-06
6935 82 M/I 165 rs770899268 0.3361 None gnomAD-2.1.1 1.14E-05
6935 82 M/I 165 rs770899268 0.3361 None gnomAD-3.1.2 2.63E-05
6935 82 M/I 165 rs770899268 0.3361 None gnomAD-4.0.0 6.54127E-06
6936 83 R/K 166 rs1206230320 0.5388 None gnomAD-2.1.1 4.35E-06
6936 83 R/K 166 rs1206230320 0.5388 None gnomAD-4.0.0 2.77145E-06
6936 83 R/W 166 rs762861187 0.5388 None gnomAD-2.1.1 1.14E-05
6936 83 R/W 166 rs762861187 0.5388 None gnomAD-3.1.2 2.63E-05
6936 83 R/W 166 rs762861187 0.5388 None gnomAD-4.0.0 6.54822E-06
6937 84 E/K 168 None 0.4941 None gnomAD-4.0.0 1.64393E-06
6938 85 N/D 169 None 0.1912 None gnomAD-4.0.0 1.65252E-06
6938 85 N/Y 169 rs769865946 0.1912 None gnomAD-2.1.1 4.46E-06
6938 85 N/Y 169 rs769865946 0.1912 None gnomAD-3.1.2 6.57E-06
6938 85 N/Y 169 rs769865946 0.1912 None gnomAD-4.0.0 6.57065E-06
6939 86 M/I 171 rs748115880 0.3461 None gnomAD-2.1.1 4.62E-06
6939 86 M/I 171 rs748115880 0.3461 None gnomAD-4.0.0 1.6711E-06
6939 86 M/L 171 None 0.3461 None gnomAD-4.0.0 6.96892E-07
6939 86 M/T 171 None 0.3461 None gnomAD-4.0.0 1.20032E-06
6939 86 M/V 171 None 0.3461 None gnomAD-4.0.0 2.78757E-06
6940 87 A/S 172 None 0.1250 None gnomAD-4.0.0 1.67561E-06
6944 91 V/D 178 rs1278982841 0.2062 None gnomAD-2.1.1 5.17E-06
6944 91 V/D 178 rs1278982841 0.2062 None gnomAD-4.0.0 3.47205E-06
6944 91 V/F 178 rs2079162110 0.2062 None gnomAD-4.0.0 1.73095E-06