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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 0.1145 None gnomAD-4.0.0 1.20032E-06
7795 1 P/S 1 rs1164633288 0.1145 None gnomAD-2.1.1 4.07E-06
7795 1 P/S 1 rs1164633288 0.1145 None gnomAD-4.0.0 3.21027E-06
7796 2 R/Q 2 rs267599059 0.3557 None gnomAD-2.1.1 7.59E-05
7796 2 R/Q 2 rs267599059 0.3557 None gnomAD-3.1.2 2.03813E-04
7796 2 R/Q 2 rs267599059 0.3557 None 1000 genomes 1.99681E-04
7796 2 R/Q 2 rs267599059 0.3557 None gnomAD-4.0.0 3.856E-05
7797 3 F/L 3 rs754815317 0.1737 None gnomAD-3.1.2 6.57E-06
7797 3 F/L 3 rs754815317 0.1737 None gnomAD-4.0.0 7.45733E-06
7798 4 V/L 4 rs144032104 0.4638 None gnomAD-4.0.0 4.1165E-06
7798 4 V/M 4 rs144032104 0.4638 None gnomAD-2.1.1 4.07E-05
7798 4 V/M 4 rs144032104 0.4638 None gnomAD-3.1.2 1.97E-05
7798 4 V/M 4 rs144032104 0.4638 None 1000 genomes 1.99681E-04
7798 4 V/M 4 rs144032104 0.4638 None gnomAD-4.0.0 1.92576E-05
7801 7 L/V 8 None 0.2061 None gnomAD-4.0.0 6.85611E-07
7804 10 T/A 13 rs1319873133 0.3832 None gnomAD-2.1.1 4.05E-06
7804 10 T/A 13 rs1319873133 0.3832 None gnomAD-4.0.0 1.59579E-06
7805 11 S/A 14 rs369062299 0.6018 None gnomAD-2.1.1 4.04E-06
7805 11 S/A 14 rs369062299 0.6018 None gnomAD-3.1.2 6.57E-06
7805 11 S/A 14 rs369062299 0.6018 None gnomAD-4.0.0 2.0299E-06
7806 12 T/P 16 None 0.1574 None gnomAD-4.0.0 1.20032E-06
7808 14 I/F 23 rs780407852 0.5666 None gnomAD-3.1.2 6.57E-06
7808 14 I/F 23 rs780407852 0.5666 None gnomAD-4.0.0 1.23958E-06
7808 14 I/T 23 rs1401488041 0.5666 None gnomAD-2.1.1 4.03E-06
7808 14 I/T 23 rs1401488041 0.5666 None gnomAD-3.1.2 6.57E-06
7808 14 I/T 23 rs1401488041 0.5666 None gnomAD-4.0.0 5.57796E-06
7808 14 I/V 23 rs780407852 0.5666 None gnomAD-2.1.1 4.03E-06
7808 14 I/V 23 rs780407852 0.5666 None gnomAD-3.1.2 6.57E-06
7808 14 I/V 23 rs780407852 0.5666 None gnomAD-4.0.0 1.23958E-06
7809 15 G/R 24 None 0.2346 None gnomAD-4.0.0 1.20032E-06
7810 16 D/G 25 rs375392021 0.5111 None gnomAD-2.1.1 4.03E-06
7810 16 D/H 25 rs2078129851 0.5111 None gnomAD-4.0.0 3.18334E-06
7810 16 D/V 25 rs375392021 0.5111 None gnomAD-2.1.1 2.15E-05
7810 16 D/V 25 rs375392021 0.5111 None gnomAD-3.1.2 4.6E-05
7810 16 D/V 25 rs375392021 0.5111 None gnomAD-4.0.0 9.13472E-06
7810 16 D/Y 25 None 0.5111 None gnomAD-3.1.2 6.57E-06
7810 16 D/Y 25 None 0.5111 None gnomAD-4.0.0 6.57194E-06
7813 19 E/Q 29 None 0.2993 None gnomAD-4.0.0 1.20032E-06
7815 21 R/G 31 None 0.5027 None gnomAD-4.0.0 6.84262E-07
7815 21 R/P 31 None 0.5027 None gnomAD-4.0.0 6.8426E-07
7815 21 R/Q 31 rs372804810 0.5027 None gnomAD-2.1.1 4.03E-05
7815 21 R/Q 31 rs372804810 0.5027 None gnomAD-3.1.2 3.94E-05
7815 21 R/Q 31 rs372804810 0.5027 None gnomAD-4.0.0 3.40853E-05
7815 21 R/W 31 rs528264100 0.5027 None gnomAD-2.1.1 4.03E-05
7815 21 R/W 31 rs528264100 0.5027 None gnomAD-3.1.2 2.63E-05
7815 21 R/W 31 rs528264100 0.5027 None gnomAD-4.0.0 2.29286E-05
7816 22 A/V 33 None 0.1017 None gnomAD-4.0.0 1.5915E-06
7818 24 V/A 35 None 0.1082 None gnomAD-4.0.0 1.5915E-06
7818 24 V/M 35 rs748019401 0.1082 None gnomAD-2.1.1 4.03E-06
7818 24 V/M 35 rs748019401 0.1082 None gnomAD-4.0.0 1.5915E-06
7819 25 E/Q 38 rs201420077 0.3884 None gnomAD-2.1.1 1.96659E-04
7819 25 E/Q 38 rs201420077 0.3884 None gnomAD-3.1.2 1.97119E-04
7819 25 E/Q 38 rs201420077 0.3884 None gnomAD-4.0.0 2.22478E-04
7821 27 F/L 41 rs1478276063 0.3973 None gnomAD-2.1.1 4.03E-06
7821 27 F/L 41 rs1478276063 0.3973 None gnomAD-4.0.0 8.21097E-06
7822 28 Q/H 42 None 0.4161 None gnomAD-4.0.0 1.5915E-06
7823 29 P/L 43 rs2154300491 0.6880 None gnomAD-4.0.0 1.20032E-06
7823 29 P/T 43 rs768540966 0.6880 None gnomAD-2.1.1 4.03E-06
7823 29 P/T 43 rs768540966 0.6880 None gnomAD-4.0.0 2.1896E-05
7825 31 S/Y 45 None 0.3690 None gnomAD-4.0.0 1.59147E-06
7826 32 V/A 46 rs200663337 0.2523 None gnomAD-2.1.1 6.43E-05
7826 32 V/A 46 rs200663337 0.2523 None gnomAD-3.1.2 4.6E-05
7826 32 V/A 46 rs200663337 0.2523 None gnomAD-4.0.0 7.74644E-05
7826 32 V/F 46 rs746798612 0.2523 None gnomAD-4.0.0 7.52669E-06
7826 32 V/I 46 rs746798612 0.2523 None gnomAD-2.1.1 1.61E-05
7826 32 V/I 46 rs746798612 0.2523 None gnomAD-3.1.2 6.57E-06
7826 32 V/I 46 rs746798612 0.2523 None gnomAD-4.0.0 7.43667E-06
7827 33 V/A 47 rs758655083 0.3544 None gnomAD-2.1.1 4.02E-06
7827 33 V/F 47 None 0.3544 None gnomAD-4.0.0 1.59146E-06
7828 34 W/L 48 rs750697689 0.1258 None gnomAD-2.1.1 8.05E-06
7828 34 W/L 48 rs750697689 0.1258 None gnomAD-4.0.0 3.18293E-06
7831 37 D/H 51 rs1220028372 0.4028 None gnomAD-2.1.1 4.02E-06
7831 37 D/H 51 rs1220028372 0.4028 None gnomAD-4.0.0 3.42122E-06
7832 38 R/G 52 rs2154300472 1.0517 None gnomAD-3.1.2 6.57E-06
7832 38 R/G 52 rs2154300472 1.0517 None gnomAD-4.0.0 6.56409E-06
7832 38 R/I 52 rs1300244680 1.0517 None gnomAD-2.1.1 4.02E-06
7832 38 R/I 52 rs1300244680 1.0517 None gnomAD-3.1.2 6.57E-06
7832 38 R/I 52 rs1300244680 1.0517 None gnomAD-4.0.0 3.84336E-06
7832 38 R/K 52 None 1.0517 None gnomAD-4.0.0 1.59144E-06
7833 39 G/D 55 rs2154300464 0.3369 None gnomAD-4.0.0 3.71797E-06
7833 39 G/R 55 rs779083208 0.3369 None gnomAD-2.1.1 8.57E-05
7833 39 G/R 55 rs779083208 0.3369 None gnomAD-3.1.2 3.29E-05
7833 39 G/R 55 rs779083208 0.3369 None gnomAD-4.0.0 2.4169E-05
7834 40 E/K 56 None 0.6851 None gnomAD-4.0.0 1.59143E-06
7835 41 V/F 57 None 0.4841 None gnomAD-4.0.0 1.20032E-06
7835 41 V/I 57 rs757420766 0.4841 None gnomAD-2.1.1 4.02E-06
7835 41 V/I 57 rs757420766 0.4841 None gnomAD-4.0.0 1.20032E-06
7836 42 I/L 58 rs1312879712 0.1768 None gnomAD-3.1.2 1.31E-05
7836 42 I/L 58 rs1312879712 0.1768 None gnomAD-4.0.0 3.04467E-06
7836 42 I/N 58 rs753936432 0.1768 None gnomAD-2.1.1 1.61E-05
7836 42 I/N 58 rs753936432 0.1768 None gnomAD-4.0.0 2.73694E-06
7836 42 I/T 58 None 0.1768 None gnomAD-4.0.0 6.84235E-07
7837 43 R/G 59 None 0.8045 None gnomAD-4.0.0 3.18281E-06
7838 44 E/D 70 None 0.4765 None gnomAD-4.0.0 1.59141E-06
7838 44 E/K 70 rs891050085 0.4765 None gnomAD-2.1.1 4.02E-06
7838 44 E/K 70 rs891050085 0.4765 None gnomAD-3.1.2 1.31E-05
7838 44 E/K 70 rs891050085 0.4765 None gnomAD-4.0.0 3.84346E-06
7839 45 S/R 73 None 0.2959 None gnomAD-4.0.0 1.20032E-06
7841 47 N/D 115 rs753072306 0.3664 None gnomAD-2.1.1 4.02E-06
7841 47 N/Y 115 rs753072306 0.3664 None gnomAD-2.1.1 2.5E-05
7841 47 N/Y 115 rs753072306 0.3664 None gnomAD-3.1.2 6.57E-06
7841 47 N/Y 115 rs753072306 0.3664 None gnomAD-4.0.0 7.43641E-06
7843 49 R/M 122 None 0.7272 None gnomAD-4.0.0 1.59144E-06
7846 52 F/L 127 rs149523263 0.2850 None gnomAD-2.1.1 3.42798E-03
7846 52 F/L 127 rs149523263 0.2850 None gnomAD-3.1.2 1.74839E-03
7846 52 F/L 127 rs149523263 0.2850 None 1000 genomes 5.99042E-03
7846 52 F/L 127 rs149523263 0.2850 None gnomAD-4.0.0 1.36846E-06
7846 52 F/Y 127 rs397517504 0.2850 None gnomAD-4.0.0 1.59144E-06
7847 53 I/T 130 rs2078114605 0.7189 None gnomAD-3.1.2 6.57E-06
7847 53 I/T 130 rs2078114605 0.7189 None gnomAD-4.0.0 6.57108E-06
7847 53 I/V 130 rs1268176947 0.7189 None gnomAD-2.1.1 8.04E-06
7847 53 I/V 130 rs1268176947 0.7189 None gnomAD-3.1.2 6.57E-06
7847 53 I/V 130 rs1268176947 0.7189 None gnomAD-4.0.0 4.95762E-06
7848 54 D/G 131 None 0.8390 None gnomAD-4.0.0 1.20032E-06
7850 56 I/F 135 None 0.3787 None gnomAD-4.0.0 1.20032E-06
7850 56 I/V 135 None 0.3787 None gnomAD-4.0.0 2.40064E-06
7851 57 A/T 136 rs1457271874 0.0945 None gnomAD-2.1.1 8.04E-06
7851 57 A/T 136 rs1457271874 0.0945 None gnomAD-4.0.0 4.77436E-06
7851 57 A/V 136 rs761381617 0.0945 None gnomAD-2.1.1 4.02E-06
7851 57 A/V 136 rs761381617 0.0945 None gnomAD-4.0.0 2.73699E-06
7852 58 T/A 137 None 0.1496 None gnomAD-4.0.0 2.05273E-06
7852 58 T/I 137 rs1183659807 0.1496 None gnomAD-3.1.2 6.57E-06
7852 58 T/I 137 rs1183659807 0.1496 None gnomAD-4.0.0 3.71838E-06
7853 59 L/F 138 rs776061262 0.0846 None gnomAD-2.1.1 8.04E-06
7853 59 L/F 138 rs776061262 0.0846 None gnomAD-4.0.0 3.18285E-06
7855 61 L/V 140 rs1364646771 0.1918 None gnomAD-2.1.1 3.19E-05
7855 61 L/V 140 rs1364646771 0.1918 None gnomAD-3.1.2 6.57E-06
7855 61 L/V 140 rs1364646771 0.1918 None gnomAD-4.0.0 2.56253E-06
7856 62 G/A 141 None 0.3319 None gnomAD-4.0.0 6.8425E-07
7856 62 G/E 141 rs919783694 0.3319 None gnomAD-2.1.1 4.02E-06
7856 62 G/E 141 rs919783694 0.3319 None gnomAD-3.1.2 6.58E-06
7856 62 G/E 141 rs919783694 0.3319 None gnomAD-4.0.0 8.67678E-06
7856 62 G/R 141 None 0.3319 None gnomAD-4.0.0 1.59148E-06
7857 63 S/T 143 None 0.4377 None gnomAD-4.0.0 1.20032E-06
7860 66 A/T 146 rs138076523 0.4301 None gnomAD-2.1.1 3.62E-05
7860 66 A/T 146 rs138076523 0.4301 None gnomAD-3.1.2 4.6E-05
7860 66 A/T 146 rs138076523 0.4301 None 1000 genomes 3.99361E-04
7860 66 A/T 146 rs138076523 0.4301 None gnomAD-4.0.0 7.25073E-05
7861 67 S/A 148 None 0.3985 None gnomAD-4.0.0 1.20033E-06
7862 68 N/T 149 rs794729629 0.2529 None gnomAD-2.1.1 4.03E-06
7862 68 N/T 149 rs794729629 0.2529 None gnomAD-4.0.0 1.5918E-06
7863 69 S/P 151 rs1553906488 0.2142 None gnomAD-4.0.0 4.10585E-06
7865 71 K/R 153 rs746952741 0.4062 None gnomAD-2.1.1 4.03E-06
7865 71 K/R 153 rs746952741 0.4062 None gnomAD-4.0.0 2.7373E-06
7866 72 Y/C 154 None 0.1433 None gnomAD-4.0.0 1.36864E-06
7866 72 Y/F 154 rs368684128 0.1433 None gnomAD-2.1.1 8.06E-06
7866 72 Y/F 154 rs368684128 0.1433 None gnomAD-3.1.2 6.57E-06
7866 72 Y/F 154 rs368684128 0.1433 None gnomAD-4.0.0 9.91682E-06
7867 73 I/M 155 rs1334032406 0.1450 None gnomAD-2.1.1 4.03E-06
7867 73 I/M 155 rs1334032406 0.1450 None gnomAD-4.0.0 2.73738E-06
7867 73 I/T 155 rs376689567 0.1450 None gnomAD-2.1.1 7.15E-06
7867 73 I/T 155 rs376689567 0.1450 None gnomAD-3.1.2 3.29E-05
7867 73 I/T 155 rs376689567 0.1450 None gnomAD-4.0.0 3.28688E-05
7867 73 I/V 155 rs1446627286 0.1450 None gnomAD-2.1.1 4.03E-06
7867 73 I/V 155 rs1446627286 0.1450 None gnomAD-4.0.0 2.05301E-06
7868 74 C/R 156 rs1158489320 0.0710 None gnomAD-3.1.2 1.31E-05
7868 74 C/R 156 rs1158489320 0.0710 None gnomAD-4.0.0 4.33878E-06
7870 76 I/N 158 None 0.0642 None gnomAD-4.0.0 2.40064E-06
7871 77 K/I 159 None 0.5202 None gnomAD-4.0.0 1.36896E-06
7872 78 N/H 161 None 0.1232 None gnomAD-4.0.0 1.59291E-06
7872 78 N/K 161 rs181206334 0.1232 None gnomAD-2.1.1 8.08E-06
7872 78 N/K 161 rs181206334 0.1232 None gnomAD-4.0.0 1.02683E-05
7872 78 N/S 161 rs746024262 0.1232 None gnomAD-2.1.1 8.08E-06
7872 78 N/S 161 rs746024262 0.1232 None gnomAD-4.0.0 1.36909E-06
7872 78 N/T 161 rs746024262 0.1232 None gnomAD-2.1.1 4.04E-06
7872 78 N/T 161 rs746024262 0.1232 None gnomAD-4.0.0 3.42274E-06
7873 79 D/G 162 None 0.6457 None gnomAD-4.0.0 1.59325E-06
7873 79 D/N 162 rs753929851 0.6457 None gnomAD-2.1.1 7.17E-06
7873 79 D/N 162 rs753929851 0.6457 None gnomAD-3.1.2 1.31E-05
7873 79 D/N 162 rs753929851 0.6457 None gnomAD-4.0.0 4.34016E-06
7874 80 A/V 163 None 0.2452 None gnomAD-4.0.0 3.18752E-06
7875 81 G/E 164 None 0.1947 None gnomAD-4.0.0 1.59444E-06
7876 82 M/I 165 None 0.3577 None gnomAD-4.0.0 3.19068E-06
7876 82 M/V 165 None 0.3577 None gnomAD-4.0.0 3.60097E-06
7879 85 C/F 169 None 0.0980 None gnomAD-4.0.0 1.59794E-06
7879 85 C/W 169 rs756600411 0.0980 None gnomAD-2.1.1 1.63E-05
7879 85 C/W 169 rs756600411 0.0980 None gnomAD-4.0.0 1.27795E-05
7879 85 C/Y 169 rs2078102033 0.0980 None gnomAD-4.0.0 1.59794E-06
7880 86 S/T 171 rs1158110251 0.3373 None gnomAD-2.1.1 4.07E-06
7880 86 S/T 171 rs1158110251 0.3373 None gnomAD-4.0.0 3.19568E-06
7881 87 A/V 172 None 0.1223 None gnomAD-4.0.0 1.59977E-06
7884 90 T/I 175 rs1180482059 0.4377 None gnomAD-2.1.1 4.13E-06
7884 90 T/I 175 rs1180482059 0.4377 None gnomAD-4.0.0 2.74767E-06
7885 91 V/A 178 rs2078098721 0.1426 None gnomAD-4.0.0 2.06364E-06
7885 91 V/L 178 rs1438134317 0.1426 None gnomAD-2.1.1 4.16E-06
7885 91 V/L 178 rs1438134317 0.1426 None gnomAD-4.0.0 3.22379E-06