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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 0.1555 None gnomAD-4.0.0 1.20032E-06
7795 1 P/S 1 rs1164633288 0.1555 None gnomAD-2.1.1 4.07E-06
7795 1 P/S 1 rs1164633288 0.1555 None gnomAD-4.0.0 3.21027E-06
7796 2 R/Q 2 rs267599059 0.3359 None gnomAD-2.1.1 7.59E-05
7796 2 R/Q 2 rs267599059 0.3359 None gnomAD-3.1.2 2.03813E-04
7796 2 R/Q 2 rs267599059 0.3359 None 1000 genomes 1.99681E-04
7796 2 R/Q 2 rs267599059 0.3359 None gnomAD-4.0.0 3.856E-05
7797 3 F/L 3 rs754815317 0.1704 None gnomAD-3.1.2 6.57E-06
7797 3 F/L 3 rs754815317 0.1704 None gnomAD-4.0.0 7.45733E-06
7798 4 V/L 4 rs144032104 0.4697 None gnomAD-4.0.0 4.1165E-06
7798 4 V/M 4 rs144032104 0.4697 None gnomAD-2.1.1 4.07E-05
7798 4 V/M 4 rs144032104 0.4697 None gnomAD-3.1.2 1.97E-05
7798 4 V/M 4 rs144032104 0.4697 None 1000 genomes 1.99681E-04
7798 4 V/M 4 rs144032104 0.4697 None gnomAD-4.0.0 1.92576E-05
7801 7 L/V 8 None 0.2058 None gnomAD-4.0.0 6.85611E-07
7804 10 T/A 13 rs1319873133 0.3923 None gnomAD-2.1.1 4.05E-06
7804 10 T/A 13 rs1319873133 0.3923 None gnomAD-4.0.0 1.59579E-06
7805 11 S/A 14 rs369062299 0.5403 None gnomAD-2.1.1 4.04E-06
7805 11 S/A 14 rs369062299 0.5403 None gnomAD-3.1.2 6.57E-06
7805 11 S/A 14 rs369062299 0.5403 None gnomAD-4.0.0 2.0299E-06
7806 12 T/P 16 None 0.1693 None gnomAD-4.0.0 1.20032E-06
7808 14 I/F 23 rs780407852 0.5422 None gnomAD-3.1.2 6.57E-06
7808 14 I/F 23 rs780407852 0.5422 None gnomAD-4.0.0 1.23958E-06
7808 14 I/T 23 rs1401488041 0.5422 None gnomAD-2.1.1 4.03E-06
7808 14 I/T 23 rs1401488041 0.5422 None gnomAD-3.1.2 6.57E-06
7808 14 I/T 23 rs1401488041 0.5422 None gnomAD-4.0.0 5.57796E-06
7808 14 I/V 23 rs780407852 0.5422 None gnomAD-2.1.1 4.03E-06
7808 14 I/V 23 rs780407852 0.5422 None gnomAD-3.1.2 6.57E-06
7808 14 I/V 23 rs780407852 0.5422 None gnomAD-4.0.0 1.23958E-06
7809 15 G/R 24 None 0.2475 None gnomAD-4.0.0 1.20032E-06
7810 16 D/G 25 rs375392021 0.5064 None gnomAD-2.1.1 4.03E-06
7810 16 D/H 25 rs2078129851 0.5064 None gnomAD-4.0.0 3.18334E-06
7810 16 D/V 25 rs375392021 0.5064 None gnomAD-2.1.1 2.15E-05
7810 16 D/V 25 rs375392021 0.5064 None gnomAD-3.1.2 4.6E-05
7810 16 D/V 25 rs375392021 0.5064 None gnomAD-4.0.0 9.13472E-06
7810 16 D/Y 25 None 0.5064 None gnomAD-3.1.2 6.57E-06
7810 16 D/Y 25 None 0.5064 None gnomAD-4.0.0 6.57194E-06
7813 19 E/Q 29 None 0.3742 None gnomAD-4.0.0 1.20032E-06
7815 21 R/G 31 None 0.4327 None gnomAD-4.0.0 6.84262E-07
7815 21 R/P 31 None 0.4327 None gnomAD-4.0.0 6.8426E-07
7815 21 R/Q 31 rs372804810 0.4327 None gnomAD-2.1.1 4.03E-05
7815 21 R/Q 31 rs372804810 0.4327 None gnomAD-3.1.2 3.94E-05
7815 21 R/Q 31 rs372804810 0.4327 None gnomAD-4.0.0 3.40853E-05
7815 21 R/W 31 rs528264100 0.4327 None gnomAD-2.1.1 4.03E-05
7815 21 R/W 31 rs528264100 0.4327 None gnomAD-3.1.2 2.63E-05
7815 21 R/W 31 rs528264100 0.4327 None gnomAD-4.0.0 2.29286E-05
7816 22 A/V 33 None 0.0967 None gnomAD-4.0.0 1.5915E-06
7818 24 V/A 35 None 0.1151 None gnomAD-4.0.0 1.5915E-06
7818 24 V/M 35 rs748019401 0.1151 None gnomAD-2.1.1 4.03E-06
7818 24 V/M 35 rs748019401 0.1151 None gnomAD-4.0.0 1.5915E-06
7819 25 E/Q 38 rs201420077 0.3972 None gnomAD-2.1.1 1.96659E-04
7819 25 E/Q 38 rs201420077 0.3972 None gnomAD-3.1.2 1.97119E-04
7819 25 E/Q 38 rs201420077 0.3972 None gnomAD-4.0.0 2.22478E-04
7821 27 F/L 41 rs1478276063 1.0848 None gnomAD-2.1.1 4.03E-06
7821 27 F/L 41 rs1478276063 1.0848 None gnomAD-4.0.0 8.21097E-06
7822 28 Q/H 42 None 0.4256 None gnomAD-4.0.0 1.5915E-06
7823 29 P/L 43 rs2154300491 0.6953 None gnomAD-4.0.0 1.20032E-06
7823 29 P/T 43 rs768540966 0.6953 None gnomAD-2.1.1 4.03E-06
7823 29 P/T 43 rs768540966 0.6953 None gnomAD-4.0.0 2.1896E-05
7825 31 S/Y 45 None 0.4152 None gnomAD-4.0.0 1.59147E-06
7826 32 V/A 46 rs200663337 0.2598 None gnomAD-2.1.1 6.43E-05
7826 32 V/A 46 rs200663337 0.2598 None gnomAD-3.1.2 4.6E-05
7826 32 V/A 46 rs200663337 0.2598 None gnomAD-4.0.0 7.74644E-05
7826 32 V/F 46 rs746798612 0.2598 None gnomAD-4.0.0 7.52669E-06
7826 32 V/I 46 rs746798612 0.2598 None gnomAD-2.1.1 1.61E-05
7826 32 V/I 46 rs746798612 0.2598 None gnomAD-3.1.2 6.57E-06
7826 32 V/I 46 rs746798612 0.2598 None gnomAD-4.0.0 7.43667E-06
7827 33 V/A 47 rs758655083 0.3725 None gnomAD-2.1.1 4.02E-06
7827 33 V/F 47 None 0.3725 None gnomAD-4.0.0 1.59146E-06
7828 34 W/L 48 rs750697689 0.1351 None gnomAD-2.1.1 8.05E-06
7828 34 W/L 48 rs750697689 0.1351 None gnomAD-4.0.0 3.18293E-06
7831 37 D/H 51 rs1220028372 0.3988 None gnomAD-2.1.1 4.02E-06
7831 37 D/H 51 rs1220028372 0.3988 None gnomAD-4.0.0 3.42122E-06
7832 38 R/G 52 rs2154300472 1.0407 None gnomAD-3.1.2 6.57E-06
7832 38 R/G 52 rs2154300472 1.0407 None gnomAD-4.0.0 6.56409E-06
7832 38 R/I 52 rs1300244680 1.0407 None gnomAD-2.1.1 4.02E-06
7832 38 R/I 52 rs1300244680 1.0407 None gnomAD-3.1.2 6.57E-06
7832 38 R/I 52 rs1300244680 1.0407 None gnomAD-4.0.0 3.84336E-06
7832 38 R/K 52 None 1.0407 None gnomAD-4.0.0 1.59144E-06
7833 39 G/D 55 rs2154300464 0.3478 None gnomAD-4.0.0 3.71797E-06
7833 39 G/R 55 rs779083208 0.3478 None gnomAD-2.1.1 8.57E-05
7833 39 G/R 55 rs779083208 0.3478 None gnomAD-3.1.2 3.29E-05
7833 39 G/R 55 rs779083208 0.3478 None gnomAD-4.0.0 2.4169E-05
7834 40 E/K 56 None 0.6083 None gnomAD-4.0.0 1.59143E-06
7835 41 V/F 57 None 0.4412 None gnomAD-4.0.0 1.20032E-06
7835 41 V/I 57 rs757420766 0.4412 None gnomAD-2.1.1 4.02E-06
7835 41 V/I 57 rs757420766 0.4412 None gnomAD-4.0.0 1.20032E-06
7836 42 I/L 58 rs1312879712 0.1700 None gnomAD-3.1.2 1.31E-05
7836 42 I/L 58 rs1312879712 0.1700 None gnomAD-4.0.0 3.04467E-06
7836 42 I/N 58 rs753936432 0.1700 None gnomAD-2.1.1 1.61E-05
7836 42 I/N 58 rs753936432 0.1700 None gnomAD-4.0.0 2.73694E-06
7836 42 I/T 58 None 0.1700 None gnomAD-4.0.0 6.84235E-07
7837 43 R/G 59 None 0.6995 None gnomAD-4.0.0 3.18281E-06
7838 44 E/D 70 None 0.5011 None gnomAD-4.0.0 1.59141E-06
7838 44 E/K 70 rs891050085 0.5011 None gnomAD-2.1.1 4.02E-06
7838 44 E/K 70 rs891050085 0.5011 None gnomAD-3.1.2 1.31E-05
7838 44 E/K 70 rs891050085 0.5011 None gnomAD-4.0.0 3.84346E-06
7839 45 S/R 73 None 0.3283 None gnomAD-4.0.0 1.20032E-06
7841 47 N/D 115 rs753072306 0.3884 None gnomAD-2.1.1 4.02E-06
7841 47 N/Y 115 rs753072306 0.3884 None gnomAD-2.1.1 2.5E-05
7841 47 N/Y 115 rs753072306 0.3884 None gnomAD-3.1.2 6.57E-06
7841 47 N/Y 115 rs753072306 0.3884 None gnomAD-4.0.0 7.43641E-06
7843 49 R/M 122 None 0.6351 None gnomAD-4.0.0 1.59144E-06
7846 52 F/L 127 rs149523263 0.2918 None gnomAD-2.1.1 3.42798E-03
7846 52 F/L 127 rs149523263 0.2918 None gnomAD-3.1.2 1.74839E-03
7846 52 F/L 127 rs149523263 0.2918 None 1000 genomes 5.99042E-03
7846 52 F/L 127 rs149523263 0.2918 None gnomAD-4.0.0 1.36846E-06
7846 52 F/Y 127 rs397517504 0.2918 None gnomAD-4.0.0 1.59144E-06
7847 53 I/T 130 rs2078114605 0.7105 None gnomAD-3.1.2 6.57E-06
7847 53 I/T 130 rs2078114605 0.7105 None gnomAD-4.0.0 6.57108E-06
7847 53 I/V 130 rs1268176947 0.7105 None gnomAD-2.1.1 8.04E-06
7847 53 I/V 130 rs1268176947 0.7105 None gnomAD-3.1.2 6.57E-06
7847 53 I/V 130 rs1268176947 0.7105 None gnomAD-4.0.0 4.95762E-06
7848 54 D/G 131 None 0.8231 None gnomAD-4.0.0 1.20032E-06
7850 56 I/F 135 None 0.2539 None gnomAD-4.0.0 1.20032E-06
7850 56 I/V 135 None 0.2539 None gnomAD-4.0.0 2.40064E-06
7851 57 A/T 136 rs1457271874 0.1008 None gnomAD-2.1.1 8.04E-06
7851 57 A/T 136 rs1457271874 0.1008 None gnomAD-4.0.0 4.77436E-06
7851 57 A/V 136 rs761381617 0.1008 None gnomAD-2.1.1 4.02E-06
7851 57 A/V 136 rs761381617 0.1008 None gnomAD-4.0.0 2.73699E-06
7852 58 T/A 137 None 0.1875 None gnomAD-4.0.0 2.05273E-06
7852 58 T/I 137 rs1183659807 0.1875 None gnomAD-3.1.2 6.57E-06
7852 58 T/I 137 rs1183659807 0.1875 None gnomAD-4.0.0 3.71838E-06
7853 59 L/F 138 rs776061262 0.0910 None gnomAD-2.1.1 8.04E-06
7853 59 L/F 138 rs776061262 0.0910 None gnomAD-4.0.0 3.18285E-06
7855 61 L/V 140 rs1364646771 0.2032 None gnomAD-2.1.1 3.19E-05
7855 61 L/V 140 rs1364646771 0.2032 None gnomAD-3.1.2 6.57E-06
7855 61 L/V 140 rs1364646771 0.2032 None gnomAD-4.0.0 2.56253E-06
7856 62 G/A 141 None 0.3020 None gnomAD-4.0.0 6.8425E-07
7856 62 G/E 141 rs919783694 0.3020 None gnomAD-2.1.1 4.02E-06
7856 62 G/E 141 rs919783694 0.3020 None gnomAD-3.1.2 6.58E-06
7856 62 G/E 141 rs919783694 0.3020 None gnomAD-4.0.0 8.67678E-06
7856 62 G/R 141 None 0.3020 None gnomAD-4.0.0 1.59148E-06
7857 63 S/T 143 None 0.4845 None gnomAD-4.0.0 1.20032E-06
7860 66 A/T 146 rs138076523 0.4600 None gnomAD-2.1.1 3.62E-05
7860 66 A/T 146 rs138076523 0.4600 None gnomAD-3.1.2 4.6E-05
7860 66 A/T 146 rs138076523 0.4600 None 1000 genomes 3.99361E-04
7860 66 A/T 146 rs138076523 0.4600 None gnomAD-4.0.0 7.25073E-05
7861 67 S/A 148 None 0.4583 None gnomAD-4.0.0 1.20033E-06
7862 68 N/T 149 rs794729629 0.2717 None gnomAD-2.1.1 4.03E-06
7862 68 N/T 149 rs794729629 0.2717 None gnomAD-4.0.0 1.5918E-06
7863 69 S/P 151 rs1553906488 0.2334 None gnomAD-4.0.0 4.10585E-06
7865 71 K/R 153 rs746952741 0.3877 None gnomAD-2.1.1 4.03E-06
7865 71 K/R 153 rs746952741 0.3877 None gnomAD-4.0.0 2.7373E-06
7866 72 Y/C 154 None 0.1494 None gnomAD-4.0.0 1.36864E-06
7866 72 Y/F 154 rs368684128 0.1494 None gnomAD-2.1.1 8.06E-06
7866 72 Y/F 154 rs368684128 0.1494 None gnomAD-3.1.2 6.57E-06
7866 72 Y/F 154 rs368684128 0.1494 None gnomAD-4.0.0 9.91682E-06
7867 73 I/M 155 rs1334032406 0.1517 None gnomAD-2.1.1 4.03E-06
7867 73 I/M 155 rs1334032406 0.1517 None gnomAD-4.0.0 2.73738E-06
7867 73 I/T 155 rs376689567 0.1517 None gnomAD-2.1.1 7.15E-06
7867 73 I/T 155 rs376689567 0.1517 None gnomAD-3.1.2 3.29E-05
7867 73 I/T 155 rs376689567 0.1517 None gnomAD-4.0.0 3.28688E-05
7867 73 I/V 155 rs1446627286 0.1517 None gnomAD-2.1.1 4.03E-06
7867 73 I/V 155 rs1446627286 0.1517 None gnomAD-4.0.0 2.05301E-06
7868 74 C/R 156 rs1158489320 0.0725 None gnomAD-3.1.2 1.31E-05
7868 74 C/R 156 rs1158489320 0.0725 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 0.5402 None gnomAD-4.0.0 1.36896E-06
7872 78 N/H 161 None 0.1943 None gnomAD-4.0.0 1.59291E-06
7872 78 N/K 161 rs181206334 0.1943 None gnomAD-2.1.1 8.08E-06
7872 78 N/K 161 rs181206334 0.1943 None gnomAD-4.0.0 1.02683E-05
7872 78 N/S 161 rs746024262 0.1943 None gnomAD-2.1.1 8.08E-06
7872 78 N/S 161 rs746024262 0.1943 None gnomAD-4.0.0 1.36909E-06
7872 78 N/T 161 rs746024262 0.1943 None gnomAD-2.1.1 4.04E-06
7872 78 N/T 161 rs746024262 0.1943 None gnomAD-4.0.0 3.42274E-06
7873 79 D/G 162 None 1.0141 None gnomAD-4.0.0 1.59325E-06
7873 79 D/N 162 rs753929851 1.0141 None gnomAD-2.1.1 7.17E-06
7873 79 D/N 162 rs753929851 1.0141 None gnomAD-3.1.2 1.31E-05
7873 79 D/N 162 rs753929851 1.0141 None gnomAD-4.0.0 4.34016E-06
7874 80 A/V 163 None 0.7659 None gnomAD-4.0.0 3.18752E-06
7875 81 G/E 164 None 0.3083 None gnomAD-4.0.0 1.59444E-06
7876 82 M/I 165 None 0.4041 None gnomAD-4.0.0 3.19068E-06
7876 82 M/V 165 None 0.4041 None gnomAD-4.0.0 3.60097E-06
7879 85 C/F 169 None 0.0991 None gnomAD-4.0.0 1.59794E-06
7879 85 C/W 169 rs756600411 0.0991 None gnomAD-2.1.1 1.63E-05
7879 85 C/W 169 rs756600411 0.0991 None gnomAD-4.0.0 1.27795E-05
7879 85 C/Y 169 rs2078102033 0.0991 None gnomAD-4.0.0 1.59794E-06
7880 86 S/T 171 rs1158110251 0.3436 None gnomAD-2.1.1 4.07E-06
7880 86 S/T 171 rs1158110251 0.3436 None gnomAD-4.0.0 3.19568E-06
7881 87 A/V 172 None 0.1243 None gnomAD-4.0.0 1.59977E-06
7884 90 T/I 175 rs1180482059 0.4388 None gnomAD-2.1.1 4.13E-06
7884 90 T/I 175 rs1180482059 0.4388 None gnomAD-4.0.0 2.74767E-06
7885 91 V/A 178 rs2078098721 0.1586 None gnomAD-4.0.0 2.06364E-06
7885 91 V/L 178 rs1438134317 0.1586 None gnomAD-2.1.1 4.16E-06
7885 91 V/L 178 rs1438134317 0.1586 None gnomAD-4.0.0 3.22379E-06