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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 L
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

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
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