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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 0.1078 None gnomAD-4.0.0 1.20032E-06
7795 1 P/S 1 rs1164633288 0.1078 None gnomAD-2.1.1 4.07E-06
7795 1 P/S 1 rs1164633288 0.1078 None gnomAD-4.0.0 3.21027E-06
7796 2 R/Q 2 rs267599059 0.3476 None gnomAD-2.1.1 7.59E-05
7796 2 R/Q 2 rs267599059 0.3476 None gnomAD-3.1.2 2.03813E-04
7796 2 R/Q 2 rs267599059 0.3476 None 1000 genomes 1.99681E-04
7796 2 R/Q 2 rs267599059 0.3476 None gnomAD-4.0.0 3.856E-05
7797 3 F/L 3 rs754815317 0.1594 None gnomAD-3.1.2 6.57E-06
7797 3 F/L 3 rs754815317 0.1594 None gnomAD-4.0.0 7.45733E-06
7798 4 V/L 4 rs144032104 0.4470 None gnomAD-4.0.0 4.1165E-06
7798 4 V/M 4 rs144032104 0.4470 None gnomAD-2.1.1 4.07E-05
7798 4 V/M 4 rs144032104 0.4470 None gnomAD-3.1.2 1.97E-05
7798 4 V/M 4 rs144032104 0.4470 None 1000 genomes 1.99681E-04
7798 4 V/M 4 rs144032104 0.4470 None gnomAD-4.0.0 1.92576E-05
7801 7 L/V 8 None 0.1996 None gnomAD-4.0.0 6.85611E-07
7804 10 T/A 13 rs1319873133 0.3554 None gnomAD-2.1.1 4.05E-06
7804 10 T/A 13 rs1319873133 0.3554 None gnomAD-4.0.0 1.59579E-06
7805 11 S/A 14 rs369062299 0.5562 None gnomAD-2.1.1 4.04E-06
7805 11 S/A 14 rs369062299 0.5562 None gnomAD-3.1.2 6.57E-06
7805 11 S/A 14 rs369062299 0.5562 None gnomAD-4.0.0 2.0299E-06
7806 12 T/P 16 None 0.1497 None gnomAD-4.0.0 1.20032E-06
7808 14 I/F 23 rs780407852 0.5949 None gnomAD-3.1.2 6.57E-06
7808 14 I/F 23 rs780407852 0.5949 None gnomAD-4.0.0 1.23958E-06
7808 14 I/T 23 rs1401488041 0.5949 None gnomAD-2.1.1 4.03E-06
7808 14 I/T 23 rs1401488041 0.5949 None gnomAD-3.1.2 6.57E-06
7808 14 I/T 23 rs1401488041 0.5949 None gnomAD-4.0.0 5.57796E-06
7808 14 I/V 23 rs780407852 0.5949 None gnomAD-2.1.1 4.03E-06
7808 14 I/V 23 rs780407852 0.5949 None gnomAD-3.1.2 6.57E-06
7808 14 I/V 23 rs780407852 0.5949 None gnomAD-4.0.0 1.23958E-06
7809 15 G/R 24 None 0.2412 None gnomAD-4.0.0 1.20032E-06
7810 16 D/G 25 rs375392021 0.5008 None gnomAD-2.1.1 4.03E-06
7810 16 D/H 25 rs2078129851 0.5008 None gnomAD-4.0.0 3.18334E-06
7810 16 D/V 25 rs375392021 0.5008 None gnomAD-2.1.1 2.15E-05
7810 16 D/V 25 rs375392021 0.5008 None gnomAD-3.1.2 4.6E-05
7810 16 D/V 25 rs375392021 0.5008 None gnomAD-4.0.0 9.13472E-06
7810 16 D/Y 25 None 0.5008 None gnomAD-3.1.2 6.57E-06
7810 16 D/Y 25 None 0.5008 None gnomAD-4.0.0 6.57194E-06
7813 19 E/Q 29 None 0.2897 None gnomAD-4.0.0 1.20032E-06
7815 21 R/G 31 None 0.4567 None gnomAD-4.0.0 6.84262E-07
7815 21 R/P 31 None 0.4567 None gnomAD-4.0.0 6.8426E-07
7815 21 R/Q 31 rs372804810 0.4567 None gnomAD-2.1.1 4.03E-05
7815 21 R/Q 31 rs372804810 0.4567 None gnomAD-3.1.2 3.94E-05
7815 21 R/Q 31 rs372804810 0.4567 None gnomAD-4.0.0 3.40853E-05
7815 21 R/W 31 rs528264100 0.4567 None gnomAD-2.1.1 4.03E-05
7815 21 R/W 31 rs528264100 0.4567 None gnomAD-3.1.2 2.63E-05
7815 21 R/W 31 rs528264100 0.4567 None gnomAD-4.0.0 2.29286E-05
7816 22 A/V 33 None 0.0932 None gnomAD-4.0.0 1.5915E-06
7818 24 V/A 35 None 0.1010 None gnomAD-4.0.0 1.5915E-06
7818 24 V/M 35 rs748019401 0.1010 None gnomAD-2.1.1 4.03E-06
7818 24 V/M 35 rs748019401 0.1010 None gnomAD-4.0.0 1.5915E-06
7819 25 E/Q 38 rs201420077 0.4016 None gnomAD-2.1.1 1.96659E-04
7819 25 E/Q 38 rs201420077 0.4016 None gnomAD-3.1.2 1.97119E-04
7819 25 E/Q 38 rs201420077 0.4016 None gnomAD-4.0.0 2.22478E-04
7821 27 F/L 41 rs1478276063 0.3436 None gnomAD-2.1.1 4.03E-06
7821 27 F/L 41 rs1478276063 0.3436 None gnomAD-4.0.0 8.21097E-06
7822 28 Q/H 42 None 0.3580 None gnomAD-4.0.0 1.5915E-06
7823 29 P/L 43 rs2154300491 0.7058 None gnomAD-4.0.0 1.20032E-06
7823 29 P/T 43 rs768540966 0.7058 None gnomAD-2.1.1 4.03E-06
7823 29 P/T 43 rs768540966 0.7058 None gnomAD-4.0.0 2.1896E-05
7825 31 S/Y 45 None 0.4116 None gnomAD-4.0.0 1.59147E-06
7826 32 V/A 46 rs200663337 0.2509 None gnomAD-2.1.1 6.43E-05
7826 32 V/A 46 rs200663337 0.2509 None gnomAD-3.1.2 4.6E-05
7826 32 V/A 46 rs200663337 0.2509 None gnomAD-4.0.0 7.74644E-05
7826 32 V/F 46 rs746798612 0.2509 None gnomAD-4.0.0 7.52669E-06
7826 32 V/I 46 rs746798612 0.2509 None gnomAD-2.1.1 1.61E-05
7826 32 V/I 46 rs746798612 0.2509 None gnomAD-3.1.2 6.57E-06
7826 32 V/I 46 rs746798612 0.2509 None gnomAD-4.0.0 7.43667E-06
7827 33 V/A 47 rs758655083 0.3888 None gnomAD-2.1.1 4.02E-06
7827 33 V/F 47 None 0.3888 None gnomAD-4.0.0 1.59146E-06
7828 34 W/L 48 rs750697689 0.1287 None gnomAD-2.1.1 8.05E-06
7828 34 W/L 48 rs750697689 0.1287 None gnomAD-4.0.0 3.18293E-06
7831 37 D/H 51 rs1220028372 0.4170 None gnomAD-2.1.1 4.02E-06
7831 37 D/H 51 rs1220028372 0.4170 None gnomAD-4.0.0 3.42122E-06
7832 38 R/G 52 rs2154300472 1.0481 None gnomAD-3.1.2 6.57E-06
7832 38 R/G 52 rs2154300472 1.0481 None gnomAD-4.0.0 6.56409E-06
7832 38 R/I 52 rs1300244680 1.0481 None gnomAD-2.1.1 4.02E-06
7832 38 R/I 52 rs1300244680 1.0481 None gnomAD-3.1.2 6.57E-06
7832 38 R/I 52 rs1300244680 1.0481 None gnomAD-4.0.0 3.84336E-06
7832 38 R/K 52 None 1.0481 None gnomAD-4.0.0 1.59144E-06
7833 39 G/D 55 rs2154300464 0.3365 None gnomAD-4.0.0 3.71797E-06
7833 39 G/R 55 rs779083208 0.3365 None gnomAD-2.1.1 8.57E-05
7833 39 G/R 55 rs779083208 0.3365 None gnomAD-3.1.2 3.29E-05
7833 39 G/R 55 rs779083208 0.3365 None gnomAD-4.0.0 2.4169E-05
7834 40 E/K 56 None 0.6388 None gnomAD-4.0.0 1.59143E-06
7835 41 V/F 57 None 0.4587 None gnomAD-4.0.0 1.20032E-06
7835 41 V/I 57 rs757420766 0.4587 None gnomAD-2.1.1 4.02E-06
7835 41 V/I 57 rs757420766 0.4587 None gnomAD-4.0.0 1.20032E-06
7836 42 I/L 58 rs1312879712 0.1668 None gnomAD-3.1.2 1.31E-05
7836 42 I/L 58 rs1312879712 0.1668 None gnomAD-4.0.0 3.04467E-06
7836 42 I/N 58 rs753936432 0.1668 None gnomAD-2.1.1 1.61E-05
7836 42 I/N 58 rs753936432 0.1668 None gnomAD-4.0.0 2.73694E-06
7836 42 I/T 58 None 0.1668 None gnomAD-4.0.0 6.84235E-07
7837 43 R/G 59 None 0.7710 None gnomAD-4.0.0 3.18281E-06
7838 44 E/D 70 None 0.4766 None gnomAD-4.0.0 1.59141E-06
7838 44 E/K 70 rs891050085 0.4766 None gnomAD-2.1.1 4.02E-06
7838 44 E/K 70 rs891050085 0.4766 None gnomAD-3.1.2 1.31E-05
7838 44 E/K 70 rs891050085 0.4766 None gnomAD-4.0.0 3.84346E-06
7839 45 S/R 73 None 0.3085 None gnomAD-4.0.0 1.20032E-06
7841 47 N/D 115 rs753072306 0.3647 None gnomAD-2.1.1 4.02E-06
7841 47 N/Y 115 rs753072306 0.3647 None gnomAD-2.1.1 2.5E-05
7841 47 N/Y 115 rs753072306 0.3647 None gnomAD-3.1.2 6.57E-06
7841 47 N/Y 115 rs753072306 0.3647 None gnomAD-4.0.0 7.43641E-06
7843 49 R/M 122 None 0.7211 None gnomAD-4.0.0 1.59144E-06
7846 52 F/L 127 rs149523263 0.2795 None gnomAD-2.1.1 3.42798E-03
7846 52 F/L 127 rs149523263 0.2795 None gnomAD-3.1.2 1.74839E-03
7846 52 F/L 127 rs149523263 0.2795 None 1000 genomes 5.99042E-03
7846 52 F/L 127 rs149523263 0.2795 None gnomAD-4.0.0 1.36846E-06
7846 52 F/Y 127 rs397517504 0.2795 None gnomAD-4.0.0 1.59144E-06
7847 53 I/T 130 rs2078114605 0.7091 None gnomAD-3.1.2 6.57E-06
7847 53 I/T 130 rs2078114605 0.7091 None gnomAD-4.0.0 6.57108E-06
7847 53 I/V 130 rs1268176947 0.7091 None gnomAD-2.1.1 8.04E-06
7847 53 I/V 130 rs1268176947 0.7091 None gnomAD-3.1.2 6.57E-06
7847 53 I/V 130 rs1268176947 0.7091 None gnomAD-4.0.0 4.95762E-06
7848 54 D/G 131 None 0.8417 None gnomAD-4.0.0 1.20032E-06
7850 56 I/F 135 None 0.3417 None gnomAD-4.0.0 1.20032E-06
7850 56 I/V 135 None 0.3417 None gnomAD-4.0.0 2.40064E-06
7851 57 A/T 136 rs1457271874 0.0909 None gnomAD-2.1.1 8.04E-06
7851 57 A/T 136 rs1457271874 0.0909 None gnomAD-4.0.0 4.77436E-06
7851 57 A/V 136 rs761381617 0.0909 None gnomAD-2.1.1 4.02E-06
7851 57 A/V 136 rs761381617 0.0909 None gnomAD-4.0.0 2.73699E-06
7852 58 T/A 137 None 0.1356 None gnomAD-4.0.0 2.05273E-06
7852 58 T/I 137 rs1183659807 0.1356 None gnomAD-3.1.2 6.57E-06
7852 58 T/I 137 rs1183659807 0.1356 None gnomAD-4.0.0 3.71838E-06
7853 59 L/F 138 rs776061262 0.0833 None gnomAD-2.1.1 8.04E-06
7853 59 L/F 138 rs776061262 0.0833 None gnomAD-4.0.0 3.18285E-06
7855 61 L/V 140 rs1364646771 0.1818 None gnomAD-2.1.1 3.19E-05
7855 61 L/V 140 rs1364646771 0.1818 None gnomAD-3.1.2 6.57E-06
7855 61 L/V 140 rs1364646771 0.1818 None gnomAD-4.0.0 2.56253E-06
7856 62 G/A 141 None 0.3089 None gnomAD-4.0.0 6.8425E-07
7856 62 G/E 141 rs919783694 0.3089 None gnomAD-2.1.1 4.02E-06
7856 62 G/E 141 rs919783694 0.3089 None gnomAD-3.1.2 6.58E-06
7856 62 G/E 141 rs919783694 0.3089 None gnomAD-4.0.0 8.67678E-06
7856 62 G/R 141 None 0.3089 None gnomAD-4.0.0 1.59148E-06
7857 63 S/T 143 None 0.4363 None gnomAD-4.0.0 1.20032E-06
7860 66 A/T 146 rs138076523 0.4579 None gnomAD-2.1.1 3.62E-05
7860 66 A/T 146 rs138076523 0.4579 None gnomAD-3.1.2 4.6E-05
7860 66 A/T 146 rs138076523 0.4579 None 1000 genomes 3.99361E-04
7860 66 A/T 146 rs138076523 0.4579 None gnomAD-4.0.0 7.25073E-05
7861 67 S/A 148 None 0.4556 None gnomAD-4.0.0 1.20033E-06
7862 68 N/T 149 rs794729629 0.2797 None gnomAD-2.1.1 4.03E-06
7862 68 N/T 149 rs794729629 0.2797 None gnomAD-4.0.0 1.5918E-06
7863 69 S/P 151 rs1553906488 0.2294 None gnomAD-4.0.0 4.10585E-06
7865 71 K/R 153 rs746952741 0.4079 None gnomAD-2.1.1 4.03E-06
7865 71 K/R 153 rs746952741 0.4079 None gnomAD-4.0.0 2.7373E-06
7866 72 Y/C 154 None 0.1464 None gnomAD-4.0.0 1.36864E-06
7866 72 Y/F 154 rs368684128 0.1464 None gnomAD-2.1.1 8.06E-06
7866 72 Y/F 154 rs368684128 0.1464 None gnomAD-3.1.2 6.57E-06
7866 72 Y/F 154 rs368684128 0.1464 None gnomAD-4.0.0 9.91682E-06
7867 73 I/M 155 rs1334032406 0.1652 None gnomAD-2.1.1 4.03E-06
7867 73 I/M 155 rs1334032406 0.1652 None gnomAD-4.0.0 2.73738E-06
7867 73 I/T 155 rs376689567 0.1652 None gnomAD-2.1.1 7.15E-06
7867 73 I/T 155 rs376689567 0.1652 None gnomAD-3.1.2 3.29E-05
7867 73 I/T 155 rs376689567 0.1652 None gnomAD-4.0.0 3.28688E-05
7867 73 I/V 155 rs1446627286 0.1652 None gnomAD-2.1.1 4.03E-06
7867 73 I/V 155 rs1446627286 0.1652 None gnomAD-4.0.0 2.05301E-06
7868 74 C/R 156 rs1158489320 0.0687 None gnomAD-3.1.2 1.31E-05
7868 74 C/R 156 rs1158489320 0.0687 None gnomAD-4.0.0 4.33878E-06
7870 76 I/N 158 None 0.0637 None gnomAD-4.0.0 2.40064E-06
7871 77 K/I 159 None 0.5604 None gnomAD-4.0.0 1.36896E-06
7872 78 N/H 161 None 0.1252 None gnomAD-4.0.0 1.59291E-06
7872 78 N/K 161 rs181206334 0.1252 None gnomAD-2.1.1 8.08E-06
7872 78 N/K 161 rs181206334 0.1252 None gnomAD-4.0.0 1.02683E-05
7872 78 N/S 161 rs746024262 0.1252 None gnomAD-2.1.1 8.08E-06
7872 78 N/S 161 rs746024262 0.1252 None gnomAD-4.0.0 1.36909E-06
7872 78 N/T 161 rs746024262 0.1252 None gnomAD-2.1.1 4.04E-06
7872 78 N/T 161 rs746024262 0.1252 None gnomAD-4.0.0 3.42274E-06
7873 79 D/G 162 None 0.7286 None gnomAD-4.0.0 1.59325E-06
7873 79 D/N 162 rs753929851 0.7286 None gnomAD-2.1.1 7.17E-06
7873 79 D/N 162 rs753929851 0.7286 None gnomAD-3.1.2 1.31E-05
7873 79 D/N 162 rs753929851 0.7286 None gnomAD-4.0.0 4.34016E-06
7874 80 A/V 163 None 0.2394 None gnomAD-4.0.0 3.18752E-06
7875 81 G/E 164 None 0.2224 None gnomAD-4.0.0 1.59444E-06
7876 82 M/I 165 None 0.3956 None gnomAD-4.0.0 3.19068E-06
7876 82 M/V 165 None 0.3956 None gnomAD-4.0.0 3.60097E-06
7879 85 C/F 169 None 0.0984 None gnomAD-4.0.0 1.59794E-06
7879 85 C/W 169 rs756600411 0.0984 None gnomAD-2.1.1 1.63E-05
7879 85 C/W 169 rs756600411 0.0984 None gnomAD-4.0.0 1.27795E-05
7879 85 C/Y 169 rs2078102033 0.0984 None gnomAD-4.0.0 1.59794E-06
7880 86 S/T 171 rs1158110251 0.3494 None gnomAD-2.1.1 4.07E-06
7880 86 S/T 171 rs1158110251 0.3494 None gnomAD-4.0.0 3.19568E-06
7881 87 A/V 172 None 0.1234 None gnomAD-4.0.0 1.59977E-06
7884 90 T/I 175 rs1180482059 0.4263 None gnomAD-2.1.1 4.13E-06
7884 90 T/I 175 rs1180482059 0.4263 None gnomAD-4.0.0 2.74767E-06
7885 91 V/A 178 rs2078098721 0.1578 None gnomAD-4.0.0 2.06364E-06
7885 91 V/L 178 rs1438134317 0.1578 None gnomAD-2.1.1 4.16E-06
7885 91 V/L 178 rs1438134317 0.1578 None gnomAD-4.0.0 3.22379E-06