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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
7795 1 P/L 1 None 0.1789 None gnomAD-4.0.0 1.20032E-06
7795 1 P/S 1 rs1164633288 0.1789 None gnomAD-2.1.1 4.07E-06
7795 1 P/S 1 rs1164633288 0.1789 None gnomAD-4.0.0 3.21027E-06
7796 2 R/Q 2 rs267599059 0.3549 None gnomAD-2.1.1 7.59E-05
7796 2 R/Q 2 rs267599059 0.3549 None gnomAD-3.1.2 2.03813E-04
7796 2 R/Q 2 rs267599059 0.3549 None 1000 genomes 1.99681E-04
7796 2 R/Q 2 rs267599059 0.3549 None gnomAD-4.0.0 3.856E-05
7797 3 F/L 3 rs754815317 0.1736 None gnomAD-3.1.2 6.57E-06
7797 3 F/L 3 rs754815317 0.1736 None gnomAD-4.0.0 7.45733E-06
7798 4 V/L 4 rs144032104 0.4449 None gnomAD-4.0.0 4.1165E-06
7798 4 V/M 4 rs144032104 0.4449 None gnomAD-2.1.1 4.07E-05
7798 4 V/M 4 rs144032104 0.4449 None gnomAD-3.1.2 1.97E-05
7798 4 V/M 4 rs144032104 0.4449 None 1000 genomes 1.99681E-04
7798 4 V/M 4 rs144032104 0.4449 None gnomAD-4.0.0 1.92576E-05
7801 7 L/V 8 None 0.2005 None gnomAD-4.0.0 6.85611E-07
7804 10 T/A 13 rs1319873133 0.3889 None gnomAD-2.1.1 4.05E-06
7804 10 T/A 13 rs1319873133 0.3889 None gnomAD-4.0.0 1.59579E-06
7805 11 S/A 14 rs369062299 0.5454 None gnomAD-2.1.1 4.04E-06
7805 11 S/A 14 rs369062299 0.5454 None gnomAD-3.1.2 6.57E-06
7805 11 S/A 14 rs369062299 0.5454 None gnomAD-4.0.0 2.0299E-06
7806 12 T/P 16 None 0.1684 None gnomAD-4.0.0 1.20032E-06
7808 14 I/F 23 rs780407852 0.5314 None gnomAD-3.1.2 6.57E-06
7808 14 I/F 23 rs780407852 0.5314 None gnomAD-4.0.0 1.23958E-06
7808 14 I/T 23 rs1401488041 0.5314 None gnomAD-2.1.1 4.03E-06
7808 14 I/T 23 rs1401488041 0.5314 None gnomAD-3.1.2 6.57E-06
7808 14 I/T 23 rs1401488041 0.5314 None gnomAD-4.0.0 5.57796E-06
7808 14 I/V 23 rs780407852 0.5314 None gnomAD-2.1.1 4.03E-06
7808 14 I/V 23 rs780407852 0.5314 None gnomAD-3.1.2 6.57E-06
7808 14 I/V 23 rs780407852 0.5314 None gnomAD-4.0.0 1.23958E-06
7809 15 G/R 24 None 0.2384 None gnomAD-4.0.0 1.20032E-06
7810 16 D/G 25 rs375392021 0.4937 None gnomAD-2.1.1 4.03E-06
7810 16 D/H 25 rs2078129851 0.4937 None gnomAD-4.0.0 3.18334E-06
7810 16 D/V 25 rs375392021 0.4937 None gnomAD-2.1.1 2.15E-05
7810 16 D/V 25 rs375392021 0.4937 None gnomAD-3.1.2 4.6E-05
7810 16 D/V 25 rs375392021 0.4937 None gnomAD-4.0.0 9.13472E-06
7810 16 D/Y 25 None 0.4937 None gnomAD-3.1.2 6.57E-06
7810 16 D/Y 25 None 0.4937 None gnomAD-4.0.0 6.57194E-06
7813 19 E/Q 29 None 0.3816 None gnomAD-4.0.0 1.20032E-06
7815 21 R/G 31 None 0.4417 None gnomAD-4.0.0 6.84262E-07
7815 21 R/P 31 None 0.4417 None gnomAD-4.0.0 6.8426E-07
7815 21 R/Q 31 rs372804810 0.4417 None gnomAD-2.1.1 4.03E-05
7815 21 R/Q 31 rs372804810 0.4417 None gnomAD-3.1.2 3.94E-05
7815 21 R/Q 31 rs372804810 0.4417 None gnomAD-4.0.0 3.40853E-05
7815 21 R/W 31 rs528264100 0.4417 None gnomAD-2.1.1 4.03E-05
7815 21 R/W 31 rs528264100 0.4417 None gnomAD-3.1.2 2.63E-05
7815 21 R/W 31 rs528264100 0.4417 None gnomAD-4.0.0 2.29286E-05
7816 22 A/V 33 None 0.1000 None gnomAD-4.0.0 1.5915E-06
7818 24 V/A 35 None 0.1138 None gnomAD-4.0.0 1.5915E-06
7818 24 V/M 35 rs748019401 0.1138 None gnomAD-2.1.1 4.03E-06
7818 24 V/M 35 rs748019401 0.1138 None gnomAD-4.0.0 1.5915E-06
7819 25 E/Q 38 rs201420077 0.4072 None gnomAD-2.1.1 1.96659E-04
7819 25 E/Q 38 rs201420077 0.4072 None gnomAD-3.1.2 1.97119E-04
7819 25 E/Q 38 rs201420077 0.4072 None gnomAD-4.0.0 2.22478E-04
7821 27 F/L 41 rs1478276063 1.0830 None gnomAD-2.1.1 4.03E-06
7821 27 F/L 41 rs1478276063 1.0830 None gnomAD-4.0.0 8.21097E-06
7822 28 Q/H 42 None 0.4486 None gnomAD-4.0.0 1.5915E-06
7823 29 P/L 43 rs2154300491 0.7654 None gnomAD-4.0.0 1.20032E-06
7823 29 P/T 43 rs768540966 0.7654 None gnomAD-2.1.1 4.03E-06
7823 29 P/T 43 rs768540966 0.7654 None gnomAD-4.0.0 2.1896E-05
7825 31 S/Y 45 None 0.3707 None gnomAD-4.0.0 1.59147E-06
7826 32 V/A 46 rs200663337 0.2516 None gnomAD-2.1.1 6.43E-05
7826 32 V/A 46 rs200663337 0.2516 None gnomAD-3.1.2 4.6E-05
7826 32 V/A 46 rs200663337 0.2516 None gnomAD-4.0.0 7.74644E-05
7826 32 V/F 46 rs746798612 0.2516 None gnomAD-4.0.0 7.52669E-06
7826 32 V/I 46 rs746798612 0.2516 None gnomAD-2.1.1 1.61E-05
7826 32 V/I 46 rs746798612 0.2516 None gnomAD-3.1.2 6.57E-06
7826 32 V/I 46 rs746798612 0.2516 None gnomAD-4.0.0 7.43667E-06
7827 33 V/A 47 rs758655083 0.3927 None gnomAD-2.1.1 4.02E-06
7827 33 V/F 47 None 0.3927 None gnomAD-4.0.0 1.59146E-06
7828 34 W/L 48 rs750697689 0.1331 None gnomAD-2.1.1 8.05E-06
7828 34 W/L 48 rs750697689 0.1331 None gnomAD-4.0.0 3.18293E-06
7831 37 D/H 51 rs1220028372 0.4132 None gnomAD-2.1.1 4.02E-06
7831 37 D/H 51 rs1220028372 0.4132 None gnomAD-4.0.0 3.42122E-06
7832 38 R/G 52 rs2154300472 1.0681 None gnomAD-3.1.2 6.57E-06
7832 38 R/G 52 rs2154300472 1.0681 None gnomAD-4.0.0 6.56409E-06
7832 38 R/I 52 rs1300244680 1.0681 None gnomAD-2.1.1 4.02E-06
7832 38 R/I 52 rs1300244680 1.0681 None gnomAD-3.1.2 6.57E-06
7832 38 R/I 52 rs1300244680 1.0681 None gnomAD-4.0.0 3.84336E-06
7832 38 R/K 52 None 1.0681 None gnomAD-4.0.0 1.59144E-06
7833 39 G/D 55 rs2154300464 0.3647 None gnomAD-4.0.0 3.71797E-06
7833 39 G/R 55 rs779083208 0.3647 None gnomAD-2.1.1 8.57E-05
7833 39 G/R 55 rs779083208 0.3647 None gnomAD-3.1.2 3.29E-05
7833 39 G/R 55 rs779083208 0.3647 None gnomAD-4.0.0 2.4169E-05
7834 40 E/K 56 None 0.6403 None gnomAD-4.0.0 1.59143E-06
7835 41 V/F 57 None 0.4127 None gnomAD-4.0.0 1.20032E-06
7835 41 V/I 57 rs757420766 0.4127 None gnomAD-2.1.1 4.02E-06
7835 41 V/I 57 rs757420766 0.4127 None gnomAD-4.0.0 1.20032E-06
7836 42 I/L 58 rs1312879712 0.1685 None gnomAD-3.1.2 1.31E-05
7836 42 I/L 58 rs1312879712 0.1685 None gnomAD-4.0.0 3.04467E-06
7836 42 I/N 58 rs753936432 0.1685 None gnomAD-2.1.1 1.61E-05
7836 42 I/N 58 rs753936432 0.1685 None gnomAD-4.0.0 2.73694E-06
7836 42 I/T 58 None 0.1685 None gnomAD-4.0.0 6.84235E-07
7837 43 R/G 59 None 0.6837 None gnomAD-4.0.0 3.18281E-06
7838 44 E/D 70 None 0.5716 None gnomAD-4.0.0 1.59141E-06
7838 44 E/K 70 rs891050085 0.5716 None gnomAD-2.1.1 4.02E-06
7838 44 E/K 70 rs891050085 0.5716 None gnomAD-3.1.2 1.31E-05
7838 44 E/K 70 rs891050085 0.5716 None gnomAD-4.0.0 3.84346E-06
7839 45 S/R 73 None 0.3217 None gnomAD-4.0.0 1.20032E-06
7841 47 N/D 115 rs753072306 0.3622 None gnomAD-2.1.1 4.02E-06
7841 47 N/Y 115 rs753072306 0.3622 None gnomAD-2.1.1 2.5E-05
7841 47 N/Y 115 rs753072306 0.3622 None gnomAD-3.1.2 6.57E-06
7841 47 N/Y 115 rs753072306 0.3622 None gnomAD-4.0.0 7.43641E-06
7843 49 R/M 122 None 0.6740 None gnomAD-4.0.0 1.59144E-06
7846 52 F/L 127 rs149523263 0.2846 None gnomAD-2.1.1 3.42798E-03
7846 52 F/L 127 rs149523263 0.2846 None gnomAD-3.1.2 1.74839E-03
7846 52 F/L 127 rs149523263 0.2846 None 1000 genomes 5.99042E-03
7846 52 F/L 127 rs149523263 0.2846 None gnomAD-4.0.0 1.36846E-06
7846 52 F/Y 127 rs397517504 0.2846 None gnomAD-4.0.0 1.59144E-06
7847 53 I/T 130 rs2078114605 0.7117 None gnomAD-3.1.2 6.57E-06
7847 53 I/T 130 rs2078114605 0.7117 None gnomAD-4.0.0 6.57108E-06
7847 53 I/V 130 rs1268176947 0.7117 None gnomAD-2.1.1 8.04E-06
7847 53 I/V 130 rs1268176947 0.7117 None gnomAD-3.1.2 6.57E-06
7847 53 I/V 130 rs1268176947 0.7117 None gnomAD-4.0.0 4.95762E-06
7848 54 D/G 131 None 0.8154 None gnomAD-4.0.0 1.20032E-06
7850 56 I/F 135 None 0.2393 None gnomAD-4.0.0 1.20032E-06
7850 56 I/V 135 None 0.2393 None gnomAD-4.0.0 2.40064E-06
7851 57 A/T 136 rs1457271874 0.0972 None gnomAD-2.1.1 8.04E-06
7851 57 A/T 136 rs1457271874 0.0972 None gnomAD-4.0.0 4.77436E-06
7851 57 A/V 136 rs761381617 0.0972 None gnomAD-2.1.1 4.02E-06
7851 57 A/V 136 rs761381617 0.0972 None gnomAD-4.0.0 2.73699E-06
7852 58 T/A 137 None 0.1795 None gnomAD-4.0.0 2.05273E-06
7852 58 T/I 137 rs1183659807 0.1795 None gnomAD-3.1.2 6.57E-06
7852 58 T/I 137 rs1183659807 0.1795 None gnomAD-4.0.0 3.71838E-06
7853 59 L/F 138 rs776061262 0.0891 None gnomAD-2.1.1 8.04E-06
7853 59 L/F 138 rs776061262 0.0891 None gnomAD-4.0.0 3.18285E-06
7855 61 L/V 140 rs1364646771 0.1891 None gnomAD-2.1.1 3.19E-05
7855 61 L/V 140 rs1364646771 0.1891 None gnomAD-3.1.2 6.57E-06
7855 61 L/V 140 rs1364646771 0.1891 None gnomAD-4.0.0 2.56253E-06
7856 62 G/A 141 None 0.2971 None gnomAD-4.0.0 6.8425E-07
7856 62 G/E 141 rs919783694 0.2971 None gnomAD-2.1.1 4.02E-06
7856 62 G/E 141 rs919783694 0.2971 None gnomAD-3.1.2 6.58E-06
7856 62 G/E 141 rs919783694 0.2971 None gnomAD-4.0.0 8.67678E-06
7856 62 G/R 141 None 0.2971 None gnomAD-4.0.0 1.59148E-06
7857 63 S/T 143 None 0.4219 None gnomAD-4.0.0 1.20032E-06
7860 66 A/T 146 rs138076523 0.4715 None gnomAD-2.1.1 3.62E-05
7860 66 A/T 146 rs138076523 0.4715 None gnomAD-3.1.2 4.6E-05
7860 66 A/T 146 rs138076523 0.4715 None 1000 genomes 3.99361E-04
7860 66 A/T 146 rs138076523 0.4715 None gnomAD-4.0.0 7.25073E-05
7861 67 S/A 148 None 0.4911 None gnomAD-4.0.0 1.20033E-06
7862 68 N/T 149 rs794729629 0.2819 None gnomAD-2.1.1 4.03E-06
7862 68 N/T 149 rs794729629 0.2819 None gnomAD-4.0.0 1.5918E-06
7863 69 S/P 151 rs1553906488 0.2286 None gnomAD-4.0.0 4.10585E-06
7865 71 K/R 153 rs746952741 0.4095 None gnomAD-2.1.1 4.03E-06
7865 71 K/R 153 rs746952741 0.4095 None gnomAD-4.0.0 2.7373E-06
7866 72 Y/C 154 None 0.1440 None gnomAD-4.0.0 1.36864E-06
7866 72 Y/F 154 rs368684128 0.1440 None gnomAD-2.1.1 8.06E-06
7866 72 Y/F 154 rs368684128 0.1440 None gnomAD-3.1.2 6.57E-06
7866 72 Y/F 154 rs368684128 0.1440 None gnomAD-4.0.0 9.91682E-06
7867 73 I/M 155 rs1334032406 0.1605 None gnomAD-2.1.1 4.03E-06
7867 73 I/M 155 rs1334032406 0.1605 None gnomAD-4.0.0 2.73738E-06
7867 73 I/T 155 rs376689567 0.1605 None gnomAD-2.1.1 7.15E-06
7867 73 I/T 155 rs376689567 0.1605 None gnomAD-3.1.2 3.29E-05
7867 73 I/T 155 rs376689567 0.1605 None gnomAD-4.0.0 3.28688E-05
7867 73 I/V 155 rs1446627286 0.1605 None gnomAD-2.1.1 4.03E-06
7867 73 I/V 155 rs1446627286 0.1605 None gnomAD-4.0.0 2.05301E-06
7868 74 C/R 156 rs1158489320 0.0717 None gnomAD-3.1.2 1.31E-05
7868 74 C/R 156 rs1158489320 0.0717 None gnomAD-4.0.0 4.33878E-06
7870 76 I/N 158 None 0.0682 None gnomAD-4.0.0 2.40064E-06
7871 77 K/I 159 None 0.5468 None gnomAD-4.0.0 1.36896E-06
7872 78 N/H 161 None 0.1803 None gnomAD-4.0.0 1.59291E-06
7872 78 N/K 161 rs181206334 0.1803 None gnomAD-2.1.1 8.08E-06
7872 78 N/K 161 rs181206334 0.1803 None gnomAD-4.0.0 1.02683E-05
7872 78 N/S 161 rs746024262 0.1803 None gnomAD-2.1.1 8.08E-06
7872 78 N/S 161 rs746024262 0.1803 None gnomAD-4.0.0 1.36909E-06
7872 78 N/T 161 rs746024262 0.1803 None gnomAD-2.1.1 4.04E-06
7872 78 N/T 161 rs746024262 0.1803 None gnomAD-4.0.0 3.42274E-06
7873 79 D/G 162 None 0.9130 None gnomAD-4.0.0 1.59325E-06
7873 79 D/N 162 rs753929851 0.9130 None gnomAD-2.1.1 7.17E-06
7873 79 D/N 162 rs753929851 0.9130 None gnomAD-3.1.2 1.31E-05
7873 79 D/N 162 rs753929851 0.9130 None gnomAD-4.0.0 4.34016E-06
7874 80 A/V 163 None 0.6814 None gnomAD-4.0.0 3.18752E-06
7875 81 G/E 164 None 0.2843 None gnomAD-4.0.0 1.59444E-06
7876 82 M/I 165 None 0.4482 None gnomAD-4.0.0 3.19068E-06
7876 82 M/V 165 None 0.4482 None gnomAD-4.0.0 3.60097E-06
7879 85 C/F 169 None 0.1097 None gnomAD-4.0.0 1.59794E-06
7879 85 C/W 169 rs756600411 0.1097 None gnomAD-2.1.1 1.63E-05
7879 85 C/W 169 rs756600411 0.1097 None gnomAD-4.0.0 1.27795E-05
7879 85 C/Y 169 rs2078102033 0.1097 None gnomAD-4.0.0 1.59794E-06
7880 86 S/T 171 rs1158110251 0.3344 None gnomAD-2.1.1 4.07E-06
7880 86 S/T 171 rs1158110251 0.3344 None gnomAD-4.0.0 3.19568E-06
7881 87 A/V 172 None 0.1204 None gnomAD-4.0.0 1.59977E-06
7884 90 T/I 175 rs1180482059 0.4452 None gnomAD-2.1.1 4.13E-06
7884 90 T/I 175 rs1180482059 0.4452 None gnomAD-4.0.0 2.74767E-06
7885 91 V/A 178 rs2078098721 0.1577 None gnomAD-4.0.0 2.06364E-06
7885 91 V/L 178 rs1438134317 0.1577 None gnomAD-2.1.1 4.16E-06
7885 91 V/L 178 rs1438134317 0.1577 None gnomAD-4.0.0 3.22379E-06