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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
3820 1 P/S 1 None 0.1818 None gnomAD-4.0.0 1.59188E-06
3821 2 I/V 2 rs867402675 0.6839 None gnomAD-3.1.2 6.57E-06
3821 2 I/V 2 rs867402675 0.6839 None gnomAD-4.0.0 1.3015E-05
3823 4 I/F 4 rs1233837931 0.6156 None gnomAD-2.1.1 4.03E-06
3823 4 I/F 4 rs1233837931 0.6156 None gnomAD-4.0.0 1.59176E-06
3824 5 K/E 5 None 0.4602 None gnomAD-4.0.0 1.20032E-06
3825 6 E/D 7 None 0.5073 None gnomAD-4.0.0 1.36857E-06
3826 7 V/L 8 rs1285885042 0.1734 None gnomAD-2.1.1 1.21E-05
3826 7 V/L 8 rs1285885042 0.1734 None gnomAD-4.0.0 3.18339E-06
3828 9 N/H 11 None 0.7025 None gnomAD-4.0.0 1.20032E-06
3828 9 N/K 11 None 0.7025 None gnomAD-4.0.0 1.59162E-06
3828 9 N/S 11 None 0.7025 None gnomAD-4.0.0 1.20032E-06
3829 10 A/G 13 rs778583163 0.2601 None gnomAD-2.1.1 8.05E-06
3829 10 A/G 13 rs778583163 0.2601 None gnomAD-4.0.0 3.18325E-06
3829 10 A/S 13 rs745332301 0.2601 None gnomAD-2.1.1 4.02E-06
3829 10 A/S 13 rs745332301 0.2601 None gnomAD-4.0.0 1.59163E-06
3829 10 A/V 13 rs778583163 0.2601 None gnomAD-2.1.1 4.02E-06
3829 10 A/V 13 rs778583163 0.2601 None gnomAD-4.0.0 1.59163E-06
3831 12 I/M 16 rs1183777377 0.2467 None gnomAD-2.1.1 3.19E-05
3831 12 I/M 16 rs1183777377 0.2467 None gnomAD-3.1.2 1.97E-05
3831 12 I/M 16 rs1183777377 0.2467 None gnomAD-4.0.0 6.40653E-06
3831 12 I/T 16 None 0.2467 None gnomAD-4.0.0 1.20032E-06
3832 13 S/I 18 None 0.3815 None gnomAD-4.0.0 1.20032E-06
3833 14 M/I 23 rs756868500 0.4264 None gnomAD-2.1.1 2.01E-05
3833 14 M/I 23 rs756868500 0.4264 None gnomAD-3.1.2 1.31E-05
3833 14 M/I 23 rs756868500 0.4264 None gnomAD-4.0.0 1.02505E-05
3833 14 M/T 23 rs2082519187 0.4264 None gnomAD-4.0.0 6.84255E-06
3833 14 M/V 23 None 0.4264 None gnomAD-4.0.0 1.59152E-06
3834 15 G/R 24 rs749170112 0.2461 None gnomAD-2.1.1 8.05E-06
3834 15 G/R 24 rs749170112 0.2461 None gnomAD-4.0.0 3.18305E-06
3835 16 D/G 25 rs1453631686 0.4645 None gnomAD-2.1.1 4.02E-06
3835 16 D/Y 25 rs1303962639 0.4645 None gnomAD-2.1.1 4.02E-06
3835 16 D/Y 25 rs1303962639 0.4645 None gnomAD-4.0.0 1.5915E-06
3836 17 V/A 26 None 0.3824 None gnomAD-4.0.0 1.59149E-06
3836 17 V/M 26 rs397517825 0.3824 None gnomAD-2.1.1 8.50061E-04
3836 17 V/M 26 rs397517825 0.3824 None gnomAD-3.1.2 2.03711E-04
3836 17 V/M 26 rs397517825 0.3824 None 1000 genomes 7.98722E-04
3836 17 V/M 26 rs397517825 0.3824 None gnomAD-4.0.0 4.07748E-04
3838 19 T/I 29 None 0.4574 None gnomAD-4.0.0 1.36853E-06
3838 19 T/K 29 rs752583542 0.4574 None gnomAD-4.0.0 1.36854E-06
3840 21 S/C 31 None 0.2667 None gnomAD-4.0.0 6.84241E-07
3840 21 S/F 31 None 0.2667 None gnomAD-4.0.0 6.84241E-07
3841 22 V/I 33 rs755132807 0.0897 None gnomAD-2.1.1 2.14E-05
3841 22 V/I 33 rs755132807 0.0897 None gnomAD-3.1.2 1.31E-05
3841 22 V/I 33 rs755132807 0.0897 None gnomAD-4.0.0 2.35496E-05
3843 24 V/A 35 rs766747906 0.1240 None gnomAD-2.1.1 2.14E-05
3843 24 V/A 35 rs766747906 0.1240 None gnomAD-3.1.2 6.57E-06
3843 24 V/A 35 rs766747906 0.1240 None gnomAD-4.0.0 3.84354E-06
3844 25 I/S 38 None 0.4357 None gnomAD-4.0.0 6.84224E-07
3844 25 I/T 38 rs1257974534 0.4357 None gnomAD-2.1.1 7.14E-06
3844 25 I/T 38 rs1257974534 0.4357 None gnomAD-3.1.2 6.57E-06
3844 25 I/T 38 rs1257974534 0.4357 None gnomAD-4.0.0 8.67531E-06
3844 25 I/V 38 rs1266364042 0.4357 None gnomAD-3.1.2 6.57E-06
3844 25 I/V 38 rs1266364042 0.4357 None gnomAD-4.0.0 2.56241E-06
3845 26 G/D 40 None 0.2260 None gnomAD-4.0.0 1.20032E-06
3845 26 G/S 40 None 0.2260 None gnomAD-4.0.0 1.59134E-06
3848 29 K/E 43 None 0.4006 None gnomAD-4.0.0 6.84212E-07
3849 30 P/L 44 rs727503662 0.1691 None gnomAD-4.0.0 2.05263E-06
3850 31 K/E 45 None 0.5937 None gnomAD-4.0.0 1.59128E-06
3850 31 K/R 45 rs763263943 0.5937 None gnomAD-2.1.1 4.02E-06
3850 31 K/R 45 rs763263943 0.5937 None gnomAD-4.0.0 1.59128E-06
3851 32 I/T 46 None 0.1859 None gnomAD-4.0.0 5.47367E-06
3852 33 Q/L 47 None 0.2955 None gnomAD-4.0.0 1.59123E-06
3854 35 F/L 49 rs2082510082 0.1755 None gnomAD-4.0.0 1.20032E-06
3855 36 F/L 50 rs1051510859 0.1420 None gnomAD-2.1.1 2.14E-05
3855 36 F/L 50 rs1051510859 0.1420 None gnomAD-3.1.2 5.91E-05
3855 36 F/L 50 rs1051510859 0.1420 None gnomAD-4.0.0 1.85904E-05
3856 37 N/S 51 rs765523683 0.4395 None gnomAD-2.1.1 1.43E-05
3856 37 N/S 51 rs765523683 0.4395 None gnomAD-3.1.2 1.97E-05
3856 37 N/S 51 rs765523683 0.4395 None gnomAD-4.0.0 1.30133E-05
3857 38 G/R 52 rs777025488 0.4321 None gnomAD-4.0.0 1.27299E-05
3858 39 V/A 55 rs1242111129 0.6065 None gnomAD-4.0.0 3.18242E-06
3861 42 T/I 59 rs1214393200 0.6049 None gnomAD-2.1.1 3.18E-05
3861 42 T/I 59 rs1214393200 0.6049 None gnomAD-3.1.2 6.57E-06
3861 42 T/I 59 rs1214393200 0.6049 None gnomAD-4.0.0 6.57134E-06
3862 43 P/R 70 rs201652675 0.4624 None gnomAD-2.1.1 4.83E-05
3862 43 P/R 70 rs201652675 0.4624 None gnomAD-3.1.2 5.26E-05
3862 43 P/R 70 rs201652675 0.4624 None gnomAD-4.0.0 7.12636E-05
3862 43 P/S 70 rs375406698 0.4624 None gnomAD-4.0.0 1.36839E-06
3862 43 P/T 70 rs375406698 0.4624 None gnomAD-2.1.1 1.21E-05
3862 43 P/T 70 rs375406698 0.4624 None gnomAD-3.1.2 1.31E-05
3862 43 P/T 70 rs375406698 0.4624 None gnomAD-4.0.0 1.79712E-05
3863 44 S/F 73 None 0.2420 None gnomAD-4.0.0 6.84196E-07
3863 44 S/Y 73 None 0.2420 None gnomAD-4.0.0 6.84196E-07
3864 45 A/P 111 rs748910775 0.5457 None gnomAD-2.1.1 4.02E-06
3864 45 A/P 111 rs748910775 0.5457 None gnomAD-4.0.0 6.84199E-07
3864 45 A/T 111 rs748910775 0.5457 None gnomAD-3.1.2 6.57E-06
3864 45 A/T 111 rs748910775 0.5457 None gnomAD-4.0.0 4.33793E-06
3866 47 Y/H 121 rs777421661 0.2548 None gnomAD-2.1.1 8.04E-06
3866 47 Y/H 121 rs777421661 0.2548 None gnomAD-3.1.2 6.57E-06
3866 47 Y/H 121 rs777421661 0.2548 None gnomAD-4.0.0 1.85889E-06
3867 48 K/R 122 rs769510047 0.2809 None gnomAD-2.1.1 4.02E-06
3867 48 K/R 122 rs769510047 0.2809 None gnomAD-4.0.0 3.18239E-06
3868 49 F/C 123 None 0.3440 None gnomAD-4.0.0 1.20032E-06
3868 49 F/L 123 rs727504700 0.3440 None gnomAD-4.0.0 1.20032E-06
3869 50 V/L 125 rs747929496 0.4472 None gnomAD-2.1.1 4.02E-06
3869 50 V/L 125 rs747929496 0.4472 None gnomAD-4.0.0 7.52617E-06
3870 51 F/S 127 None 0.4960 None gnomAD-4.0.0 1.20032E-06
3872 53 G/D 131 rs751755895 0.3507 None gnomAD-4.0.0 1.3684E-06
3872 53 G/S 131 rs754936734 0.3507 None gnomAD-2.1.1 1.07E-05
3872 53 G/S 131 rs754936734 0.3507 None gnomAD-3.1.2 2.63E-05
3872 53 G/S 131 rs754936734 0.3507 None gnomAD-4.0.0 1.17745E-05
3872 53 G/V 131 rs751755895 0.3507 None gnomAD-2.1.1 1.43E-05
3872 53 G/V 131 rs751755895 0.3507 None gnomAD-3.1.2 3.29E-05
3872 53 G/V 131 rs751755895 0.3507 None gnomAD-4.0.0 6.1969E-05
3873 54 D/H 134 rs1435923406 0.4603 None gnomAD-3.1.2 6.57E-06
3873 54 D/H 134 rs1435923406 0.4603 None gnomAD-4.0.0 6.57186E-06
3875 56 H/R 136 None 0.1908 None gnomAD-4.0.0 1.59122E-06
3878 59 I/N 139 None 0.2532 None gnomAD-4.0.0 6.84195E-07
3878 59 I/T 139 None 0.2532 None gnomAD-4.0.0 1.36839E-06
3879 60 I/V 140 rs765448965 0.0912 None gnomAD-2.1.1 4.02E-06
3879 60 I/V 140 rs765448965 0.0912 None gnomAD-4.0.0 3.42096E-06
3880 61 L/V 141 rs762132549 0.2866 None gnomAD-2.1.1 4.02E-06
3880 61 L/V 141 rs762132549 0.2866 None gnomAD-4.0.0 1.59118E-06
3882 63 T/A 144 rs2082491063 0.1106 None gnomAD-3.1.2 6.57E-06
3882 63 T/A 144 rs2082491063 0.1106 None gnomAD-4.0.0 6.57333E-06
3883 64 K/R 145 rs764648076 0.3712 None gnomAD-2.1.1 2.01E-05
3883 64 K/R 145 rs764648076 0.3712 None gnomAD-3.1.2 6.57E-06
3883 64 K/R 145 rs764648076 0.3712 None gnomAD-4.0.0 5.57711E-06
3883 64 K/T 145 rs764648076 0.3712 None gnomAD-2.1.1 3.19E-05
3883 64 K/T 145 rs764648076 0.3712 None gnomAD-3.1.2 6.57E-06
3883 64 K/T 145 rs764648076 0.3712 None gnomAD-4.0.0 6.5722E-06
3884 65 L/W 146 rs2082489145 0.7759 None gnomAD-4.0.0 1.59118E-06
3885 66 E/Q 148 rs761154231 0.6309 None gnomAD-2.1.1 4.02E-06
3885 66 E/Q 148 rs761154231 0.6309 None gnomAD-4.0.0 1.36839E-06
3886 67 D/E 149 rs1300492136 0.1605 None gnomAD-2.1.1 4.02E-06
3886 67 D/E 149 rs1300492136 0.1605 None gnomAD-4.0.0 1.20032E-06
3889 70 E/A 153 None 0.3922 None gnomAD-4.0.0 2.40064E-06
3889 70 E/D 153 rs377423256 0.3922 None gnomAD-2.1.1 1.43E-05
3889 70 E/D 153 rs377423256 0.3922 None gnomAD-3.1.2 5.92E-05
3889 70 E/D 153 rs377423256 0.3922 None gnomAD-4.0.0 1.05351E-05
3891 72 T/I 155 rs148164929 0.1993 None gnomAD-2.1.1 5.10911E-04
3891 72 T/I 155 rs148164929 0.1993 None gnomAD-3.1.2 8.48126E-04
3891 72 T/I 155 rs148164929 0.1993 None 1000 genomes 1.19808E-03
3891 72 T/I 155 rs148164929 0.1993 None gnomAD-4.0.0 2.91238E-04
3891 72 T/K 155 None 0.1993 None gnomAD-4.0.0 2.05257E-06
3892 73 C/S 156 None 0.0683 None gnomAD-4.0.0 1.59118E-06
3893 74 M/I 157 rs2154318912 0.1688 None gnomAD-4.0.0 3.18234E-06
3893 74 M/T 157 rs1553941782 0.1688 None gnomAD-3.1.2 1.31E-05
3893 74 M/T 157 rs1553941782 0.1688 None gnomAD-4.0.0 5.57719E-06
3895 76 S/C 159 rs772765158 0.2849 None gnomAD-2.1.1 4.02E-06
3895 76 S/C 159 rs772765158 0.2849 None gnomAD-4.0.0 4.77351E-06
3895 76 S/N 159 rs769466475 0.2849 None gnomAD-2.1.1 4.02E-06
3895 76 S/N 159 rs769466475 0.2849 None gnomAD-3.1.2 6.57E-06
3895 76 S/N 159 rs769466475 0.2849 None gnomAD-4.0.0 2.85052E-05
3895 76 S/T 159 None 0.2849 None gnomAD-4.0.0 1.3684E-06
3896 77 N/S 161 rs1207560844 0.1490 None gnomAD-3.1.2 6.57E-06
3896 77 N/S 161 rs1207560844 0.1490 None gnomAD-4.0.0 2.47863E-06
3897 78 D/E 162 None 0.7673 None gnomAD-4.0.0 4.80129E-06
3897 78 D/N 162 None 0.7673 None gnomAD-4.0.0 7.52618E-06
3897 78 D/V 162 rs2082481128 0.7673 None gnomAD-4.0.0 4.78933E-06
3897 78 D/Y 162 rs1300532206 0.7673 None gnomAD-2.1.1 3.19E-05
3897 78 D/Y 162 rs1300532206 0.7673 None gnomAD-3.1.2 6.57E-06
3897 78 D/Y 162 rs1300532206 0.7673 None gnomAD-4.0.0 8.67564E-06
3898 79 Y/C 163 rs747933911 0.9050 None gnomAD-2.1.1 4.02E-06
3898 79 Y/C 163 rs747933911 0.9050 None gnomAD-4.0.0 1.59116E-06
3898 79 Y/D 163 rs1553941743 0.9050 None gnomAD-4.0.0 4.77348E-06
3899 80 G/R 164 None 0.2901 None gnomAD-4.0.0 1.59119E-06
3900 81 K/N 165 None 0.5467 None gnomAD-4.0.0 1.59119E-06
3901 82 T/I 166 rs1388046179 0.1996 None gnomAD-2.1.1 4.02E-06
3901 82 T/I 166 rs1388046179 0.1996 None gnomAD-4.0.0 1.36839E-06
3902 83 I/M 168 rs368845723 0.6593 None gnomAD-2.1.1 3.18E-05
3902 83 I/M 168 rs368845723 0.6593 None gnomAD-3.1.2 1.31E-05
3902 83 I/M 168 rs368845723 0.6593 None gnomAD-4.0.0 4.95726E-06
3903 84 C/R 169 None 0.1078 None gnomAD-4.0.0 1.20032E-06
3904 85 S/R 171 None 0.3699 None gnomAD-4.0.0 1.59114E-06
3906 87 Y/C 173 rs375020177 0.3494 None gnomAD-2.1.1 1.07E-05
3906 87 Y/C 173 rs375020177 0.3494 None gnomAD-3.1.2 1.31E-05
3906 87 Y/C 173 rs375020177 0.3494 None gnomAD-4.0.0 4.33767E-06
3907 88 L/V 174 rs55853696 0.1100 None gnomAD-2.1.1 3.57582E-03
3907 88 L/V 174 rs55853696 0.1100 None gnomAD-3.1.2 1.10132E-02
3907 88 L/V 174 rs55853696 0.1100 None 1000 genomes 1.21805E-02
3907 88 L/V 174 rs55853696 0.1100 None gnomAD-4.0.0 1.98722E-03
3909 90 I/L 178 None 0.1336 None gnomAD-4.0.0 3.60097E-06
3909 90 I/T 178 rs1452766565 0.1336 None gnomAD-2.1.1 4.02E-06
3909 90 I/T 178 rs1452766565 0.1336 None gnomAD-4.0.0 8.21015E-06
3909 90 I/V 178 None 0.1336 None gnomAD-4.0.0 1.20032E-06