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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 0.1572 None gnomAD-4.0.0 1.20032E-06
7795 1 P/S 1 rs1164633288 0.1572 None gnomAD-2.1.1 4.07E-06
7795 1 P/S 1 rs1164633288 0.1572 None gnomAD-4.0.0 3.21027E-06
7796 2 R/Q 2 rs267599059 0.4662 None gnomAD-2.1.1 7.59E-05
7796 2 R/Q 2 rs267599059 0.4662 None gnomAD-3.1.2 2.03813E-04
7796 2 R/Q 2 rs267599059 0.4662 None 1000 genomes 1.99681E-04
7796 2 R/Q 2 rs267599059 0.4662 None gnomAD-4.0.0 3.856E-05
7797 3 F/L 3 rs754815317 0.1539 None gnomAD-3.1.2 6.57E-06
7797 3 F/L 3 rs754815317 0.1539 None gnomAD-4.0.0 7.45733E-06
7798 4 V/L 4 rs144032104 0.5014 None gnomAD-4.0.0 4.1165E-06
7798 4 V/M 4 rs144032104 0.5014 None gnomAD-2.1.1 4.07E-05
7798 4 V/M 4 rs144032104 0.5014 None gnomAD-3.1.2 1.97E-05
7798 4 V/M 4 rs144032104 0.5014 None 1000 genomes 1.99681E-04
7798 4 V/M 4 rs144032104 0.5014 None gnomAD-4.0.0 1.92576E-05
7801 7 L/V 8 None 0.1921 None gnomAD-4.0.0 6.85611E-07
7804 10 T/A 13 rs1319873133 0.3868 None gnomAD-2.1.1 4.05E-06
7804 10 T/A 13 rs1319873133 0.3868 None gnomAD-4.0.0 1.59579E-06
7805 11 S/A 14 rs369062299 0.5440 None gnomAD-2.1.1 4.04E-06
7805 11 S/A 14 rs369062299 0.5440 None gnomAD-3.1.2 6.57E-06
7805 11 S/A 14 rs369062299 0.5440 None gnomAD-4.0.0 2.0299E-06
7806 12 T/P 16 None 0.1660 None gnomAD-4.0.0 1.20032E-06
7808 14 I/F 23 rs780407852 0.5788 None gnomAD-3.1.2 6.57E-06
7808 14 I/F 23 rs780407852 0.5788 None gnomAD-4.0.0 1.23958E-06
7808 14 I/T 23 rs1401488041 0.5788 None gnomAD-2.1.1 4.03E-06
7808 14 I/T 23 rs1401488041 0.5788 None gnomAD-3.1.2 6.57E-06
7808 14 I/T 23 rs1401488041 0.5788 None gnomAD-4.0.0 5.57796E-06
7808 14 I/V 23 rs780407852 0.5788 None gnomAD-2.1.1 4.03E-06
7808 14 I/V 23 rs780407852 0.5788 None gnomAD-3.1.2 6.57E-06
7808 14 I/V 23 rs780407852 0.5788 None gnomAD-4.0.0 1.23958E-06
7809 15 G/R 24 None 0.2588 None gnomAD-4.0.0 1.20032E-06
7810 16 D/G 25 rs375392021 0.5190 None gnomAD-2.1.1 4.03E-06
7810 16 D/H 25 rs2078129851 0.5190 None gnomAD-4.0.0 3.18334E-06
7810 16 D/V 25 rs375392021 0.5190 None gnomAD-2.1.1 2.15E-05
7810 16 D/V 25 rs375392021 0.5190 None gnomAD-3.1.2 4.6E-05
7810 16 D/V 25 rs375392021 0.5190 None gnomAD-4.0.0 9.13472E-06
7810 16 D/Y 25 None 0.5190 None gnomAD-3.1.2 6.57E-06
7810 16 D/Y 25 None 0.5190 None gnomAD-4.0.0 6.57194E-06
7813 19 E/Q 29 None 0.3441 None gnomAD-4.0.0 1.20032E-06
7815 21 R/G 31 None 0.5180 None gnomAD-4.0.0 6.84262E-07
7815 21 R/P 31 None 0.5180 None gnomAD-4.0.0 6.8426E-07
7815 21 R/Q 31 rs372804810 0.5180 None gnomAD-2.1.1 4.03E-05
7815 21 R/Q 31 rs372804810 0.5180 None gnomAD-3.1.2 3.94E-05
7815 21 R/Q 31 rs372804810 0.5180 None gnomAD-4.0.0 3.40853E-05
7815 21 R/W 31 rs528264100 0.5180 None gnomAD-2.1.1 4.03E-05
7815 21 R/W 31 rs528264100 0.5180 None gnomAD-3.1.2 2.63E-05
7815 21 R/W 31 rs528264100 0.5180 None gnomAD-4.0.0 2.29286E-05
7816 22 A/V 33 None 0.0989 None gnomAD-4.0.0 1.5915E-06
7818 24 V/A 35 None 0.1072 None gnomAD-4.0.0 1.5915E-06
7818 24 V/M 35 rs748019401 0.1072 None gnomAD-2.1.1 4.03E-06
7818 24 V/M 35 rs748019401 0.1072 None gnomAD-4.0.0 1.5915E-06
7819 25 E/Q 38 rs201420077 0.4103 None gnomAD-2.1.1 1.96659E-04
7819 25 E/Q 38 rs201420077 0.4103 None gnomAD-3.1.2 1.97119E-04
7819 25 E/Q 38 rs201420077 0.4103 None gnomAD-4.0.0 2.22478E-04
7821 27 F/L 41 rs1478276063 1.1015 None gnomAD-2.1.1 4.03E-06
7821 27 F/L 41 rs1478276063 1.1015 None gnomAD-4.0.0 8.21097E-06
7822 28 Q/H 42 None 0.4418 None gnomAD-4.0.0 1.5915E-06
7823 29 P/L 43 rs2154300491 0.7739 None gnomAD-4.0.0 1.20032E-06
7823 29 P/T 43 rs768540966 0.7739 None gnomAD-2.1.1 4.03E-06
7823 29 P/T 43 rs768540966 0.7739 None gnomAD-4.0.0 2.1896E-05
7825 31 S/Y 45 None 0.3659 None gnomAD-4.0.0 1.59147E-06
7826 32 V/A 46 rs200663337 0.2543 None gnomAD-2.1.1 6.43E-05
7826 32 V/A 46 rs200663337 0.2543 None gnomAD-3.1.2 4.6E-05
7826 32 V/A 46 rs200663337 0.2543 None gnomAD-4.0.0 7.74644E-05
7826 32 V/F 46 rs746798612 0.2543 None gnomAD-4.0.0 7.52669E-06
7826 32 V/I 46 rs746798612 0.2543 None gnomAD-2.1.1 1.61E-05
7826 32 V/I 46 rs746798612 0.2543 None gnomAD-3.1.2 6.57E-06
7826 32 V/I 46 rs746798612 0.2543 None gnomAD-4.0.0 7.43667E-06
7827 33 V/A 47 rs758655083 0.4040 None gnomAD-2.1.1 4.02E-06
7827 33 V/F 47 None 0.4040 None gnomAD-4.0.0 1.59146E-06
7828 34 W/L 48 rs750697689 0.1376 None gnomAD-2.1.1 8.05E-06
7828 34 W/L 48 rs750697689 0.1376 None gnomAD-4.0.0 3.18293E-06
7831 37 D/H 51 rs1220028372 0.4802 None gnomAD-2.1.1 4.02E-06
7831 37 D/H 51 rs1220028372 0.4802 None gnomAD-4.0.0 3.42122E-06
7832 38 R/G 52 rs2154300472 0.8410 None gnomAD-3.1.2 6.57E-06
7832 38 R/G 52 rs2154300472 0.8410 None gnomAD-4.0.0 6.56409E-06
7832 38 R/I 52 rs1300244680 0.8410 None gnomAD-2.1.1 4.02E-06
7832 38 R/I 52 rs1300244680 0.8410 None gnomAD-3.1.2 6.57E-06
7832 38 R/I 52 rs1300244680 0.8410 None gnomAD-4.0.0 3.84336E-06
7832 38 R/K 52 None 0.8410 None gnomAD-4.0.0 1.59144E-06
7833 39 G/D 55 rs2154300464 0.5460 None gnomAD-4.0.0 3.71797E-06
7833 39 G/R 55 rs779083208 0.5460 None gnomAD-2.1.1 8.57E-05
7833 39 G/R 55 rs779083208 0.5460 None gnomAD-3.1.2 3.29E-05
7833 39 G/R 55 rs779083208 0.5460 None gnomAD-4.0.0 2.4169E-05
7834 40 E/K 56 None 0.8046 None gnomAD-4.0.0 1.59143E-06
7835 41 V/F 57 None 0.5014 None gnomAD-4.0.0 1.20032E-06
7835 41 V/I 57 rs757420766 0.5014 None gnomAD-2.1.1 4.02E-06
7835 41 V/I 57 rs757420766 0.5014 None gnomAD-4.0.0 1.20032E-06
7836 42 I/L 58 rs1312879712 0.1923 None gnomAD-3.1.2 1.31E-05
7836 42 I/L 58 rs1312879712 0.1923 None gnomAD-4.0.0 3.04467E-06
7836 42 I/N 58 rs753936432 0.1923 None gnomAD-2.1.1 1.61E-05
7836 42 I/N 58 rs753936432 0.1923 None gnomAD-4.0.0 2.73694E-06
7836 42 I/T 58 None 0.1923 None gnomAD-4.0.0 6.84235E-07
7837 43 R/G 59 None 0.8371 None gnomAD-4.0.0 3.18281E-06
7838 44 E/D 70 None 0.5308 None gnomAD-4.0.0 1.59141E-06
7838 44 E/K 70 rs891050085 0.5308 None gnomAD-2.1.1 4.02E-06
7838 44 E/K 70 rs891050085 0.5308 None gnomAD-3.1.2 1.31E-05
7838 44 E/K 70 rs891050085 0.5308 None gnomAD-4.0.0 3.84346E-06
7839 45 S/R 73 None 0.3222 None gnomAD-4.0.0 1.20032E-06
7841 47 N/D 115 rs753072306 0.3726 None gnomAD-2.1.1 4.02E-06
7841 47 N/Y 115 rs753072306 0.3726 None gnomAD-2.1.1 2.5E-05
7841 47 N/Y 115 rs753072306 0.3726 None gnomAD-3.1.2 6.57E-06
7841 47 N/Y 115 rs753072306 0.3726 None gnomAD-4.0.0 7.43641E-06
7843 49 R/M 122 None 0.6831 None gnomAD-4.0.0 1.59144E-06
7846 52 F/L 127 rs149523263 0.2874 None gnomAD-2.1.1 3.42798E-03
7846 52 F/L 127 rs149523263 0.2874 None gnomAD-3.1.2 1.74839E-03
7846 52 F/L 127 rs149523263 0.2874 None 1000 genomes 5.99042E-03
7846 52 F/L 127 rs149523263 0.2874 None gnomAD-4.0.0 1.36846E-06
7846 52 F/Y 127 rs397517504 0.2874 None gnomAD-4.0.0 1.59144E-06
7847 53 I/T 130 rs2078114605 0.7132 None gnomAD-3.1.2 6.57E-06
7847 53 I/T 130 rs2078114605 0.7132 None gnomAD-4.0.0 6.57108E-06
7847 53 I/V 130 rs1268176947 0.7132 None gnomAD-2.1.1 8.04E-06
7847 53 I/V 130 rs1268176947 0.7132 None gnomAD-3.1.2 6.57E-06
7847 53 I/V 130 rs1268176947 0.7132 None gnomAD-4.0.0 4.95762E-06
7848 54 D/G 131 None 0.8210 None gnomAD-4.0.0 1.20032E-06
7850 56 I/F 135 None 0.3641 None gnomAD-4.0.0 1.20032E-06
7850 56 I/V 135 None 0.3641 None gnomAD-4.0.0 2.40064E-06
7851 57 A/T 136 rs1457271874 0.0922 None gnomAD-2.1.1 8.04E-06
7851 57 A/T 136 rs1457271874 0.0922 None gnomAD-4.0.0 4.77436E-06
7851 57 A/V 136 rs761381617 0.0922 None gnomAD-2.1.1 4.02E-06
7851 57 A/V 136 rs761381617 0.0922 None gnomAD-4.0.0 2.73699E-06
7852 58 T/A 137 None 0.1749 None gnomAD-4.0.0 2.05273E-06
7852 58 T/I 137 rs1183659807 0.1749 None gnomAD-3.1.2 6.57E-06
7852 58 T/I 137 rs1183659807 0.1749 None gnomAD-4.0.0 3.71838E-06
7853 59 L/F 138 rs776061262 0.0925 None gnomAD-2.1.1 8.04E-06
7853 59 L/F 138 rs776061262 0.0925 None gnomAD-4.0.0 3.18285E-06
7855 61 L/V 140 rs1364646771 0.1887 None gnomAD-2.1.1 3.19E-05
7855 61 L/V 140 rs1364646771 0.1887 None gnomAD-3.1.2 6.57E-06
7855 61 L/V 140 rs1364646771 0.1887 None gnomAD-4.0.0 2.56253E-06
7856 62 G/A 141 None 0.2987 None gnomAD-4.0.0 6.8425E-07
7856 62 G/E 141 rs919783694 0.2987 None gnomAD-2.1.1 4.02E-06
7856 62 G/E 141 rs919783694 0.2987 None gnomAD-3.1.2 6.58E-06
7856 62 G/E 141 rs919783694 0.2987 None gnomAD-4.0.0 8.67678E-06
7856 62 G/R 141 None 0.2987 None gnomAD-4.0.0 1.59148E-06
7857 63 S/T 143 None 0.4553 None gnomAD-4.0.0 1.20032E-06
7860 66 A/T 146 rs138076523 0.4695 None gnomAD-2.1.1 3.62E-05
7860 66 A/T 146 rs138076523 0.4695 None gnomAD-3.1.2 4.6E-05
7860 66 A/T 146 rs138076523 0.4695 None 1000 genomes 3.99361E-04
7860 66 A/T 146 rs138076523 0.4695 None gnomAD-4.0.0 7.25073E-05
7861 67 S/A 148 None 0.5059 None gnomAD-4.0.0 1.20033E-06
7862 68 N/T 149 rs794729629 0.2943 None gnomAD-2.1.1 4.03E-06
7862 68 N/T 149 rs794729629 0.2943 None gnomAD-4.0.0 1.5918E-06
7863 69 S/P 151 rs1553906488 0.2422 None gnomAD-4.0.0 4.10585E-06
7865 71 K/R 153 rs746952741 0.3118 None gnomAD-2.1.1 4.03E-06
7865 71 K/R 153 rs746952741 0.3118 None gnomAD-4.0.0 2.7373E-06
7866 72 Y/C 154 None 0.1545 None gnomAD-4.0.0 1.36864E-06
7866 72 Y/F 154 rs368684128 0.1545 None gnomAD-2.1.1 8.06E-06
7866 72 Y/F 154 rs368684128 0.1545 None gnomAD-3.1.2 6.57E-06
7866 72 Y/F 154 rs368684128 0.1545 None gnomAD-4.0.0 9.91682E-06
7867 73 I/M 155 rs1334032406 0.1242 None gnomAD-2.1.1 4.03E-06
7867 73 I/M 155 rs1334032406 0.1242 None gnomAD-4.0.0 2.73738E-06
7867 73 I/T 155 rs376689567 0.1242 None gnomAD-2.1.1 7.15E-06
7867 73 I/T 155 rs376689567 0.1242 None gnomAD-3.1.2 3.29E-05
7867 73 I/T 155 rs376689567 0.1242 None gnomAD-4.0.0 3.28688E-05
7867 73 I/V 155 rs1446627286 0.1242 None gnomAD-2.1.1 4.03E-06
7867 73 I/V 155 rs1446627286 0.1242 None gnomAD-4.0.0 2.05301E-06
7868 74 C/R 156 rs1158489320 0.0648 None gnomAD-3.1.2 1.31E-05
7868 74 C/R 156 rs1158489320 0.0648 None gnomAD-4.0.0 4.33878E-06
7870 76 I/N 158 None 0.0611 None gnomAD-4.0.0 2.40064E-06
7871 77 K/I 159 None 0.4617 None gnomAD-4.0.0 1.36896E-06
7872 78 N/H 161 None 0.1880 None gnomAD-4.0.0 1.59291E-06
7872 78 N/K 161 rs181206334 0.1880 None gnomAD-2.1.1 8.08E-06
7872 78 N/K 161 rs181206334 0.1880 None gnomAD-4.0.0 1.02683E-05
7872 78 N/S 161 rs746024262 0.1880 None gnomAD-2.1.1 8.08E-06
7872 78 N/S 161 rs746024262 0.1880 None gnomAD-4.0.0 1.36909E-06
7872 78 N/T 161 rs746024262 0.1880 None gnomAD-2.1.1 4.04E-06
7872 78 N/T 161 rs746024262 0.1880 None gnomAD-4.0.0 3.42274E-06
7873 79 D/G 162 None 0.9334 None gnomAD-4.0.0 1.59325E-06
7873 79 D/N 162 rs753929851 0.9334 None gnomAD-2.1.1 7.17E-06
7873 79 D/N 162 rs753929851 0.9334 None gnomAD-3.1.2 1.31E-05
7873 79 D/N 162 rs753929851 0.9334 None gnomAD-4.0.0 4.34016E-06
7874 80 A/V 163 None 0.6916 None gnomAD-4.0.0 3.18752E-06
7875 81 G/E 164 None 0.2926 None gnomAD-4.0.0 1.59444E-06
7876 82 M/I 165 None 0.4039 None gnomAD-4.0.0 3.19068E-06
7876 82 M/V 165 None 0.4039 None gnomAD-4.0.0 3.60097E-06
7879 85 C/F 169 None 0.0962 None gnomAD-4.0.0 1.59794E-06
7879 85 C/W 169 rs756600411 0.0962 None gnomAD-2.1.1 1.63E-05
7879 85 C/W 169 rs756600411 0.0962 None gnomAD-4.0.0 1.27795E-05
7879 85 C/Y 169 rs2078102033 0.0962 None gnomAD-4.0.0 1.59794E-06
7880 86 S/T 171 rs1158110251 0.3359 None gnomAD-2.1.1 4.07E-06
7880 86 S/T 171 rs1158110251 0.3359 None gnomAD-4.0.0 3.19568E-06
7881 87 A/V 172 None 0.1154 None gnomAD-4.0.0 1.59977E-06
7884 90 T/I 175 rs1180482059 0.4208 None gnomAD-2.1.1 4.13E-06
7884 90 T/I 175 rs1180482059 0.4208 None gnomAD-4.0.0 2.74767E-06
7885 91 V/A 178 rs2078098721 0.1449 None gnomAD-4.0.0 2.06364E-06
7885 91 V/L 178 rs1438134317 0.1449 None gnomAD-2.1.1 4.16E-06
7885 91 V/L 178 rs1438134317 0.1449 None gnomAD-4.0.0 3.22379E-06