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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 V F T Q K P S P V G A L K G S D V I L Q C E I S G T P P F E V V W V K D R K Q V R N S K K F K I T S K H F D T S L H I L N L E A S D V G E Y H C K A T N E V G S D T C S C S V K F K E P 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 0.1161 None gnomAD-4.0.0 1.20032E-06
7795 1 P/S 1 rs1164633288 0.1161 None gnomAD-2.1.1 4.07E-06
7795 1 P/S 1 rs1164633288 0.1161 None gnomAD-4.0.0 3.21027E-06
7796 2 R/Q 2 rs267599059 0.3637 None gnomAD-2.1.1 7.59E-05
7796 2 R/Q 2 rs267599059 0.3637 None gnomAD-3.1.2 2.03813E-04
7796 2 R/Q 2 rs267599059 0.3637 None 1000 genomes 1.99681E-04
7796 2 R/Q 2 rs267599059 0.3637 None gnomAD-4.0.0 3.856E-05
7797 3 F/L 3 rs754815317 0.1773 None gnomAD-3.1.2 6.57E-06
7797 3 F/L 3 rs754815317 0.1773 None gnomAD-4.0.0 7.45733E-06
7798 4 V/L 4 rs144032104 0.4551 None gnomAD-4.0.0 4.1165E-06
7798 4 V/M 4 rs144032104 0.4551 None gnomAD-2.1.1 4.07E-05
7798 4 V/M 4 rs144032104 0.4551 None gnomAD-3.1.2 1.97E-05
7798 4 V/M 4 rs144032104 0.4551 None 1000 genomes 1.99681E-04
7798 4 V/M 4 rs144032104 0.4551 None gnomAD-4.0.0 1.92576E-05
7801 7 L/V 8 None 0.2080 None gnomAD-4.0.0 6.85611E-07
7804 10 T/A 13 rs1319873133 0.3899 None gnomAD-2.1.1 4.05E-06
7804 10 T/A 13 rs1319873133 0.3899 None gnomAD-4.0.0 1.59579E-06
7805 11 S/A 14 rs369062299 0.5305 None gnomAD-2.1.1 4.04E-06
7805 11 S/A 14 rs369062299 0.5305 None gnomAD-3.1.2 6.57E-06
7805 11 S/A 14 rs369062299 0.5305 None gnomAD-4.0.0 2.0299E-06
7806 12 T/P 16 None 0.1647 None gnomAD-4.0.0 1.20032E-06
7808 14 I/F 23 rs780407852 0.5396 None gnomAD-3.1.2 6.57E-06
7808 14 I/F 23 rs780407852 0.5396 None gnomAD-4.0.0 1.23958E-06
7808 14 I/T 23 rs1401488041 0.5396 None gnomAD-2.1.1 4.03E-06
7808 14 I/T 23 rs1401488041 0.5396 None gnomAD-3.1.2 6.57E-06
7808 14 I/T 23 rs1401488041 0.5396 None gnomAD-4.0.0 5.57796E-06
7808 14 I/V 23 rs780407852 0.5396 None gnomAD-2.1.1 4.03E-06
7808 14 I/V 23 rs780407852 0.5396 None gnomAD-3.1.2 6.57E-06
7808 14 I/V 23 rs780407852 0.5396 None gnomAD-4.0.0 1.23958E-06
7809 15 G/R 24 None 0.2449 None gnomAD-4.0.0 1.20032E-06
7810 16 D/G 25 rs375392021 0.5060 None gnomAD-2.1.1 4.03E-06
7810 16 D/H 25 rs2078129851 0.5060 None gnomAD-4.0.0 3.18334E-06
7810 16 D/V 25 rs375392021 0.5060 None gnomAD-2.1.1 2.15E-05
7810 16 D/V 25 rs375392021 0.5060 None gnomAD-3.1.2 4.6E-05
7810 16 D/V 25 rs375392021 0.5060 None gnomAD-4.0.0 9.13472E-06
7810 16 D/Y 25 None 0.5060 None gnomAD-3.1.2 6.57E-06
7810 16 D/Y 25 None 0.5060 None gnomAD-4.0.0 6.57194E-06
7813 19 E/Q 29 None 0.3739 None gnomAD-4.0.0 1.20032E-06
7815 21 R/G 31 None 0.4398 None gnomAD-4.0.0 6.84262E-07
7815 21 R/P 31 None 0.4398 None gnomAD-4.0.0 6.8426E-07
7815 21 R/Q 31 rs372804810 0.4398 None gnomAD-2.1.1 4.03E-05
7815 21 R/Q 31 rs372804810 0.4398 None gnomAD-3.1.2 3.94E-05
7815 21 R/Q 31 rs372804810 0.4398 None gnomAD-4.0.0 3.40853E-05
7815 21 R/W 31 rs528264100 0.4398 None gnomAD-2.1.1 4.03E-05
7815 21 R/W 31 rs528264100 0.4398 None gnomAD-3.1.2 2.63E-05
7815 21 R/W 31 rs528264100 0.4398 None gnomAD-4.0.0 2.29286E-05
7816 22 A/V 33 None 0.1002 None gnomAD-4.0.0 1.5915E-06
7818 24 V/A 35 None 0.1163 None gnomAD-4.0.0 1.5915E-06
7818 24 V/M 35 rs748019401 0.1163 None gnomAD-2.1.1 4.03E-06
7818 24 V/M 35 rs748019401 0.1163 None gnomAD-4.0.0 1.5915E-06
7819 25 E/Q 38 rs201420077 0.3922 None gnomAD-2.1.1 1.96659E-04
7819 25 E/Q 38 rs201420077 0.3922 None gnomAD-3.1.2 1.97119E-04
7819 25 E/Q 38 rs201420077 0.3922 None gnomAD-4.0.0 2.22478E-04
7821 27 F/L 41 rs1478276063 0.3081 None gnomAD-2.1.1 4.03E-06
7821 27 F/L 41 rs1478276063 0.3081 None gnomAD-4.0.0 8.21097E-06
7822 28 Q/H 42 None 0.4171 None gnomAD-4.0.0 1.5915E-06
7823 29 P/L 43 rs2154300491 0.7440 None gnomAD-4.0.0 1.20032E-06
7823 29 P/T 43 rs768540966 0.7440 None gnomAD-2.1.1 4.03E-06
7823 29 P/T 43 rs768540966 0.7440 None gnomAD-4.0.0 2.1896E-05
7825 31 S/Y 45 None 0.4090 None gnomAD-4.0.0 1.59147E-06
7826 32 V/A 46 rs200663337 0.2588 None gnomAD-2.1.1 6.43E-05
7826 32 V/A 46 rs200663337 0.2588 None gnomAD-3.1.2 4.6E-05
7826 32 V/A 46 rs200663337 0.2588 None gnomAD-4.0.0 7.74644E-05
7826 32 V/F 46 rs746798612 0.2588 None gnomAD-4.0.0 7.52669E-06
7826 32 V/I 46 rs746798612 0.2588 None gnomAD-2.1.1 1.61E-05
7826 32 V/I 46 rs746798612 0.2588 None gnomAD-3.1.2 6.57E-06
7826 32 V/I 46 rs746798612 0.2588 None gnomAD-4.0.0 7.43667E-06
7827 33 V/A 47 rs758655083 0.3804 None gnomAD-2.1.1 4.02E-06
7827 33 V/F 47 None 0.3804 None gnomAD-4.0.0 1.59146E-06
7828 34 W/L 48 rs750697689 0.1334 None gnomAD-2.1.1 8.05E-06
7828 34 W/L 48 rs750697689 0.1334 None gnomAD-4.0.0 3.18293E-06
7831 37 D/H 51 rs1220028372 0.4117 None gnomAD-2.1.1 4.02E-06
7831 37 D/H 51 rs1220028372 0.4117 None gnomAD-4.0.0 3.42122E-06
7832 38 R/G 52 rs2154300472 1.0566 None gnomAD-3.1.2 6.57E-06
7832 38 R/G 52 rs2154300472 1.0566 None gnomAD-4.0.0 6.56409E-06
7832 38 R/I 52 rs1300244680 1.0566 None gnomAD-2.1.1 4.02E-06
7832 38 R/I 52 rs1300244680 1.0566 None gnomAD-3.1.2 6.57E-06
7832 38 R/I 52 rs1300244680 1.0566 None gnomAD-4.0.0 3.84336E-06
7832 38 R/K 52 None 1.0566 None gnomAD-4.0.0 1.59144E-06
7833 39 G/D 55 rs2154300464 0.3689 None gnomAD-4.0.0 3.71797E-06
7833 39 G/R 55 rs779083208 0.3689 None gnomAD-2.1.1 8.57E-05
7833 39 G/R 55 rs779083208 0.3689 None gnomAD-3.1.2 3.29E-05
7833 39 G/R 55 rs779083208 0.3689 None gnomAD-4.0.0 2.4169E-05
7834 40 E/K 56 None 0.6098 None gnomAD-4.0.0 1.59143E-06
7835 41 V/F 57 None 0.4190 None gnomAD-4.0.0 1.20032E-06
7835 41 V/I 57 rs757420766 0.4190 None gnomAD-2.1.1 4.02E-06
7835 41 V/I 57 rs757420766 0.4190 None gnomAD-4.0.0 1.20032E-06
7836 42 I/L 58 rs1312879712 0.1678 None gnomAD-3.1.2 1.31E-05
7836 42 I/L 58 rs1312879712 0.1678 None gnomAD-4.0.0 3.04467E-06
7836 42 I/N 58 rs753936432 0.1678 None gnomAD-2.1.1 1.61E-05
7836 42 I/N 58 rs753936432 0.1678 None gnomAD-4.0.0 2.73694E-06
7836 42 I/T 58 None 0.1678 None gnomAD-4.0.0 6.84235E-07
7837 43 R/G 59 None 0.6849 None gnomAD-4.0.0 3.18281E-06
7838 44 E/D 70 None 0.5014 None gnomAD-4.0.0 1.59141E-06
7838 44 E/K 70 rs891050085 0.5014 None gnomAD-2.1.1 4.02E-06
7838 44 E/K 70 rs891050085 0.5014 None gnomAD-3.1.2 1.31E-05
7838 44 E/K 70 rs891050085 0.5014 None gnomAD-4.0.0 3.84346E-06
7839 45 S/R 73 None 0.3272 None gnomAD-4.0.0 1.20032E-06
7841 47 N/D 115 rs753072306 0.3887 None gnomAD-2.1.1 4.02E-06
7841 47 N/Y 115 rs753072306 0.3887 None gnomAD-2.1.1 2.5E-05
7841 47 N/Y 115 rs753072306 0.3887 None gnomAD-3.1.2 6.57E-06
7841 47 N/Y 115 rs753072306 0.3887 None gnomAD-4.0.0 7.43641E-06
7843 49 R/M 122 None 0.6448 None gnomAD-4.0.0 1.59144E-06
7846 52 F/L 127 rs149523263 0.2890 None gnomAD-2.1.1 3.42798E-03
7846 52 F/L 127 rs149523263 0.2890 None gnomAD-3.1.2 1.74839E-03
7846 52 F/L 127 rs149523263 0.2890 None 1000 genomes 5.99042E-03
7846 52 F/L 127 rs149523263 0.2890 None gnomAD-4.0.0 1.36846E-06
7846 52 F/Y 127 rs397517504 0.2890 None gnomAD-4.0.0 1.59144E-06
7847 53 I/T 130 rs2078114605 0.7040 None gnomAD-3.1.2 6.57E-06
7847 53 I/T 130 rs2078114605 0.7040 None gnomAD-4.0.0 6.57108E-06
7847 53 I/V 130 rs1268176947 0.7040 None gnomAD-2.1.1 8.04E-06
7847 53 I/V 130 rs1268176947 0.7040 None gnomAD-3.1.2 6.57E-06
7847 53 I/V 130 rs1268176947 0.7040 None gnomAD-4.0.0 4.95762E-06
7848 54 D/G 131 None 0.8116 None gnomAD-4.0.0 1.20032E-06
7850 56 I/F 135 None 0.2486 None gnomAD-4.0.0 1.20032E-06
7850 56 I/V 135 None 0.2486 None gnomAD-4.0.0 2.40064E-06
7851 57 A/T 136 rs1457271874 0.1005 None gnomAD-2.1.1 8.04E-06
7851 57 A/T 136 rs1457271874 0.1005 None gnomAD-4.0.0 4.77436E-06
7851 57 A/V 136 rs761381617 0.1005 None gnomAD-2.1.1 4.02E-06
7851 57 A/V 136 rs761381617 0.1005 None gnomAD-4.0.0 2.73699E-06
7852 58 T/A 137 None 0.1836 None gnomAD-4.0.0 2.05273E-06
7852 58 T/I 137 rs1183659807 0.1836 None gnomAD-3.1.2 6.57E-06
7852 58 T/I 137 rs1183659807 0.1836 None gnomAD-4.0.0 3.71838E-06
7853 59 L/F 138 rs776061262 0.0914 None gnomAD-2.1.1 8.04E-06
7853 59 L/F 138 rs776061262 0.0914 None gnomAD-4.0.0 3.18285E-06
7855 61 L/V 140 rs1364646771 0.2038 None gnomAD-2.1.1 3.19E-05
7855 61 L/V 140 rs1364646771 0.2038 None gnomAD-3.1.2 6.57E-06
7855 61 L/V 140 rs1364646771 0.2038 None gnomAD-4.0.0 2.56253E-06
7856 62 G/A 141 None 0.3252 None gnomAD-4.0.0 6.8425E-07
7856 62 G/E 141 rs919783694 0.3252 None gnomAD-2.1.1 4.02E-06
7856 62 G/E 141 rs919783694 0.3252 None gnomAD-3.1.2 6.58E-06
7856 62 G/E 141 rs919783694 0.3252 None gnomAD-4.0.0 8.67678E-06
7856 62 G/R 141 None 0.3252 None gnomAD-4.0.0 1.59148E-06
7857 63 S/T 143 None 0.4444 None gnomAD-4.0.0 1.20032E-06
7860 66 A/T 146 rs138076523 0.4519 None gnomAD-2.1.1 3.62E-05
7860 66 A/T 146 rs138076523 0.4519 None gnomAD-3.1.2 4.6E-05
7860 66 A/T 146 rs138076523 0.4519 None 1000 genomes 3.99361E-04
7860 66 A/T 146 rs138076523 0.4519 None gnomAD-4.0.0 7.25073E-05
7861 67 S/A 148 None 0.4469 None gnomAD-4.0.0 1.20033E-06
7862 68 N/T 149 rs794729629 0.2744 None gnomAD-2.1.1 4.03E-06
7862 68 N/T 149 rs794729629 0.2744 None gnomAD-4.0.0 1.5918E-06
7863 69 S/P 151 rs1553906488 0.2356 None gnomAD-4.0.0 4.10585E-06
7865 71 K/R 153 rs746952741 0.3763 None gnomAD-2.1.1 4.03E-06
7865 71 K/R 153 rs746952741 0.3763 None gnomAD-4.0.0 2.7373E-06
7866 72 Y/C 154 None 0.1470 None gnomAD-4.0.0 1.36864E-06
7866 72 Y/F 154 rs368684128 0.1470 None gnomAD-2.1.1 8.06E-06
7866 72 Y/F 154 rs368684128 0.1470 None gnomAD-3.1.2 6.57E-06
7866 72 Y/F 154 rs368684128 0.1470 None gnomAD-4.0.0 9.91682E-06
7867 73 I/M 155 rs1334032406 0.1516 None gnomAD-2.1.1 4.03E-06
7867 73 I/M 155 rs1334032406 0.1516 None gnomAD-4.0.0 2.73738E-06
7867 73 I/T 155 rs376689567 0.1516 None gnomAD-2.1.1 7.15E-06
7867 73 I/T 155 rs376689567 0.1516 None gnomAD-3.1.2 3.29E-05
7867 73 I/T 155 rs376689567 0.1516 None gnomAD-4.0.0 3.28688E-05
7867 73 I/V 155 rs1446627286 0.1516 None gnomAD-2.1.1 4.03E-06
7867 73 I/V 155 rs1446627286 0.1516 None gnomAD-4.0.0 2.05301E-06
7868 74 C/R 156 rs1158489320 0.0728 None gnomAD-3.1.2 1.31E-05
7868 74 C/R 156 rs1158489320 0.0728 None gnomAD-4.0.0 4.33878E-06
7870 76 I/N 158 None 0.0706 None gnomAD-4.0.0 2.40064E-06
7871 77 K/I 159 None 0.5726 None gnomAD-4.0.0 1.36896E-06
7872 78 N/H 161 None 0.1302 None gnomAD-4.0.0 1.59291E-06
7872 78 N/K 161 rs181206334 0.1302 None gnomAD-2.1.1 8.08E-06
7872 78 N/K 161 rs181206334 0.1302 None gnomAD-4.0.0 1.02683E-05
7872 78 N/S 161 rs746024262 0.1302 None gnomAD-2.1.1 8.08E-06
7872 78 N/S 161 rs746024262 0.1302 None gnomAD-4.0.0 1.36909E-06
7872 78 N/T 161 rs746024262 0.1302 None gnomAD-2.1.1 4.04E-06
7872 78 N/T 161 rs746024262 0.1302 None gnomAD-4.0.0 3.42274E-06
7873 79 D/G 162 None 0.5069 None gnomAD-4.0.0 1.59325E-06
7873 79 D/N 162 rs753929851 0.5069 None gnomAD-2.1.1 7.17E-06
7873 79 D/N 162 rs753929851 0.5069 None gnomAD-3.1.2 1.31E-05
7873 79 D/N 162 rs753929851 0.5069 None gnomAD-4.0.0 4.34016E-06
7874 80 A/V 163 None 0.2318 None gnomAD-4.0.0 3.18752E-06
7875 81 G/E 164 None 0.1933 None gnomAD-4.0.0 1.59444E-06
7876 82 M/I 165 None 0.4490 None gnomAD-4.0.0 3.19068E-06
7876 82 M/V 165 None 0.4490 None gnomAD-4.0.0 3.60097E-06
7879 85 C/F 169 None 0.1092 None gnomAD-4.0.0 1.59794E-06
7879 85 C/W 169 rs756600411 0.1092 None gnomAD-2.1.1 1.63E-05
7879 85 C/W 169 rs756600411 0.1092 None gnomAD-4.0.0 1.27795E-05
7879 85 C/Y 169 rs2078102033 0.1092 None gnomAD-4.0.0 1.59794E-06
7880 86 S/T 171 rs1158110251 0.3363 None gnomAD-2.1.1 4.07E-06
7880 86 S/T 171 rs1158110251 0.3363 None gnomAD-4.0.0 3.19568E-06
7881 87 A/V 172 None 0.1220 None gnomAD-4.0.0 1.59977E-06
7884 90 T/I 175 rs1180482059 0.4427 None gnomAD-2.1.1 4.13E-06
7884 90 T/I 175 rs1180482059 0.4427 None gnomAD-4.0.0 2.74767E-06
7885 91 V/A 178 rs2078098721 0.1574 None gnomAD-4.0.0 2.06364E-06
7885 91 V/L 178 rs1438134317 0.1574 None gnomAD-2.1.1 4.16E-06
7885 91 V/L 178 rs1438134317 0.1574 None gnomAD-4.0.0 3.22379E-06