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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
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 0.1830 None gnomAD-4.0.0 1.20032E-06
7795 1 P/S 1 rs1164633288 0.1830 None gnomAD-2.1.1 4.07E-06
7795 1 P/S 1 rs1164633288 0.1830 None gnomAD-4.0.0 3.21027E-06
7796 2 R/Q 2 rs267599059 0.4564 None gnomAD-2.1.1 7.59E-05
7796 2 R/Q 2 rs267599059 0.4564 None gnomAD-3.1.2 2.03813E-04
7796 2 R/Q 2 rs267599059 0.4564 None 1000 genomes 1.99681E-04
7796 2 R/Q 2 rs267599059 0.4564 None gnomAD-4.0.0 3.856E-05
7797 3 F/L 3 rs754815317 0.1250 None gnomAD-3.1.2 6.57E-06
7797 3 F/L 3 rs754815317 0.1250 None gnomAD-4.0.0 7.45733E-06
7798 4 V/L 4 rs144032104 0.2962 None gnomAD-4.0.0 4.1165E-06
7798 4 V/M 4 rs144032104 0.2962 None gnomAD-2.1.1 4.07E-05
7798 4 V/M 4 rs144032104 0.2962 None gnomAD-3.1.2 1.97E-05
7798 4 V/M 4 rs144032104 0.2962 None 1000 genomes 1.99681E-04
7798 4 V/M 4 rs144032104 0.2962 None gnomAD-4.0.0 1.92576E-05
7801 7 L/V 8 None 0.2593 None gnomAD-4.0.0 6.85611E-07
7804 10 T/A 13 rs1319873133 0.5571 None gnomAD-2.1.1 4.05E-06
7804 10 T/A 13 rs1319873133 0.5571 None gnomAD-4.0.0 1.59579E-06
7805 11 S/A 14 rs369062299 0.3296 None gnomAD-2.1.1 4.04E-06
7805 11 S/A 14 rs369062299 0.3296 None gnomAD-3.1.2 6.57E-06
7805 11 S/A 14 rs369062299 0.3296 None gnomAD-4.0.0 2.0299E-06
7806 12 T/P 16 None 0.6152 None gnomAD-4.0.0 1.20032E-06
7808 14 I/F 23 rs780407852 0.9711 None gnomAD-3.1.2 6.57E-06
7808 14 I/F 23 rs780407852 0.9711 None gnomAD-4.0.0 1.23958E-06
7808 14 I/T 23 rs1401488041 0.9711 None gnomAD-2.1.1 4.03E-06
7808 14 I/T 23 rs1401488041 0.9711 None gnomAD-3.1.2 6.57E-06
7808 14 I/T 23 rs1401488041 0.9711 None gnomAD-4.0.0 5.57796E-06
7808 14 I/V 23 rs780407852 0.9711 None gnomAD-2.1.1 4.03E-06
7808 14 I/V 23 rs780407852 0.9711 None gnomAD-3.1.2 6.57E-06
7808 14 I/V 23 rs780407852 0.9711 None gnomAD-4.0.0 1.23958E-06
7809 15 G/R 24 None 0.2672 None gnomAD-4.0.0 1.20032E-06
7810 16 D/G 25 rs375392021 0.6366 None gnomAD-2.1.1 4.03E-06
7810 16 D/H 25 rs2078129851 0.6366 None gnomAD-4.0.0 3.18334E-06
7810 16 D/V 25 rs375392021 0.6366 None gnomAD-2.1.1 2.15E-05
7810 16 D/V 25 rs375392021 0.6366 None gnomAD-3.1.2 4.6E-05
7810 16 D/V 25 rs375392021 0.6366 None gnomAD-4.0.0 9.13472E-06
7810 16 D/Y 25 None 0.6366 None gnomAD-3.1.2 6.57E-06
7810 16 D/Y 25 None 0.6366 None gnomAD-4.0.0 6.57194E-06
7813 19 E/Q 29 None 0.5175 None gnomAD-4.0.0 1.20032E-06
7815 21 R/G 31 None 0.6302 None gnomAD-4.0.0 6.84262E-07
7815 21 R/P 31 None 0.6302 None gnomAD-4.0.0 6.8426E-07
7815 21 R/Q 31 rs372804810 0.6302 None gnomAD-2.1.1 4.03E-05
7815 21 R/Q 31 rs372804810 0.6302 None gnomAD-3.1.2 3.94E-05
7815 21 R/Q 31 rs372804810 0.6302 None gnomAD-4.0.0 3.40853E-05
7815 21 R/W 31 rs528264100 0.6302 None gnomAD-2.1.1 4.03E-05
7815 21 R/W 31 rs528264100 0.6302 None gnomAD-3.1.2 2.63E-05
7815 21 R/W 31 rs528264100 0.6302 None gnomAD-4.0.0 2.29286E-05
7816 22 A/V 33 None 0.1156 None gnomAD-4.0.0 1.5915E-06
7818 24 V/A 35 None 0.0943 None gnomAD-4.0.0 1.5915E-06
7818 24 V/M 35 rs748019401 0.0943 None gnomAD-2.1.1 4.03E-06
7818 24 V/M 35 rs748019401 0.0943 None gnomAD-4.0.0 1.5915E-06
7819 25 E/Q 38 rs201420077 0.4748 None gnomAD-2.1.1 1.96659E-04
7819 25 E/Q 38 rs201420077 0.4748 None gnomAD-3.1.2 1.97119E-04
7819 25 E/Q 38 rs201420077 0.4748 None gnomAD-4.0.0 2.22478E-04
7821 27 F/L 41 rs1478276063 0.9750 None gnomAD-2.1.1 4.03E-06
7821 27 F/L 41 rs1478276063 0.9750 None gnomAD-4.0.0 8.21097E-06
7822 28 Q/H 42 None 0.5576 None gnomAD-4.0.0 1.5915E-06
7823 29 P/L 43 rs2154300491 0.7506 None gnomAD-4.0.0 1.20032E-06
7823 29 P/T 43 rs768540966 0.7506 None gnomAD-2.1.1 4.03E-06
7823 29 P/T 43 rs768540966 0.7506 None gnomAD-4.0.0 2.1896E-05
7825 31 S/Y 45 None 0.4344 None gnomAD-4.0.0 1.59147E-06
7826 32 V/A 46 rs200663337 0.1915 None gnomAD-2.1.1 6.43E-05
7826 32 V/A 46 rs200663337 0.1915 None gnomAD-3.1.2 4.6E-05
7826 32 V/A 46 rs200663337 0.1915 None gnomAD-4.0.0 7.74644E-05
7826 32 V/F 46 rs746798612 0.1915 None gnomAD-4.0.0 7.52669E-06
7826 32 V/I 46 rs746798612 0.1915 None gnomAD-2.1.1 1.61E-05
7826 32 V/I 46 rs746798612 0.1915 None gnomAD-3.1.2 6.57E-06
7826 32 V/I 46 rs746798612 0.1915 None gnomAD-4.0.0 7.43667E-06
7827 33 V/A 47 rs758655083 0.3153 None gnomAD-2.1.1 4.02E-06
7827 33 V/F 47 None 0.3153 None gnomAD-4.0.0 1.59146E-06
7828 34 W/L 48 rs750697689 0.1224 None gnomAD-2.1.1 8.05E-06
7828 34 W/L 48 rs750697689 0.1224 None gnomAD-4.0.0 3.18293E-06
7831 37 D/H 51 rs1220028372 0.5638 None gnomAD-2.1.1 4.02E-06
7831 37 D/H 51 rs1220028372 0.5638 None gnomAD-4.0.0 3.42122E-06
7832 38 R/G 52 rs2154300472 0.9385 None gnomAD-3.1.2 6.57E-06
7832 38 R/G 52 rs2154300472 0.9385 None gnomAD-4.0.0 6.56409E-06
7832 38 R/I 52 rs1300244680 0.9385 None gnomAD-2.1.1 4.02E-06
7832 38 R/I 52 rs1300244680 0.9385 None gnomAD-3.1.2 6.57E-06
7832 38 R/I 52 rs1300244680 0.9385 None gnomAD-4.0.0 3.84336E-06
7832 38 R/K 52 None 0.9385 None gnomAD-4.0.0 1.59144E-06
7833 39 G/D 55 rs2154300464 0.1690 None gnomAD-4.0.0 3.71797E-06
7833 39 G/R 55 rs779083208 0.1690 None gnomAD-2.1.1 8.57E-05
7833 39 G/R 55 rs779083208 0.1690 None gnomAD-3.1.2 3.29E-05
7833 39 G/R 55 rs779083208 0.1690 None gnomAD-4.0.0 2.4169E-05
7834 40 E/K 56 None 0.4825 None gnomAD-4.0.0 1.59143E-06
7835 41 V/F 57 None 0.3466 None gnomAD-4.0.0 1.20032E-06
7835 41 V/I 57 rs757420766 0.3466 None gnomAD-2.1.1 4.02E-06
7835 41 V/I 57 rs757420766 0.3466 None gnomAD-4.0.0 1.20032E-06
7836 42 I/L 58 rs1312879712 0.1270 None gnomAD-3.1.2 1.31E-05
7836 42 I/L 58 rs1312879712 0.1270 None gnomAD-4.0.0 3.04467E-06
7836 42 I/N 58 rs753936432 0.1270 None gnomAD-2.1.1 1.61E-05
7836 42 I/N 58 rs753936432 0.1270 None gnomAD-4.0.0 2.73694E-06
7836 42 I/T 58 None 0.1270 None gnomAD-4.0.0 6.84235E-07
7837 43 R/G 59 None 0.7583 None gnomAD-4.0.0 3.18281E-06
7838 44 E/D 70 None 0.3473 None gnomAD-4.0.0 1.59141E-06
7838 44 E/K 70 rs891050085 0.3473 None gnomAD-2.1.1 4.02E-06
7838 44 E/K 70 rs891050085 0.3473 None gnomAD-3.1.2 1.31E-05
7838 44 E/K 70 rs891050085 0.3473 None gnomAD-4.0.0 3.84346E-06
7839 45 S/R 73 None 0.2046 None gnomAD-4.0.0 1.20032E-06
7841 47 N/D 115 rs753072306 0.5988 None gnomAD-2.1.1 4.02E-06
7841 47 N/Y 115 rs753072306 0.5988 None gnomAD-2.1.1 2.5E-05
7841 47 N/Y 115 rs753072306 0.5988 None gnomAD-3.1.2 6.57E-06
7841 47 N/Y 115 rs753072306 0.5988 None gnomAD-4.0.0 7.43641E-06
7843 49 R/M 122 None 0.3423 None gnomAD-4.0.0 1.59144E-06
7846 52 F/L 127 rs149523263 0.2483 None gnomAD-2.1.1 3.42798E-03
7846 52 F/L 127 rs149523263 0.2483 None gnomAD-3.1.2 1.74839E-03
7846 52 F/L 127 rs149523263 0.2483 None 1000 genomes 5.99042E-03
7846 52 F/L 127 rs149523263 0.2483 None gnomAD-4.0.0 1.36846E-06
7846 52 F/Y 127 rs397517504 0.2483 None gnomAD-4.0.0 1.59144E-06
7847 53 I/T 130 rs2078114605 0.5815 None gnomAD-3.1.2 6.57E-06
7847 53 I/T 130 rs2078114605 0.5815 None gnomAD-4.0.0 6.57108E-06
7847 53 I/V 130 rs1268176947 0.5815 None gnomAD-2.1.1 8.04E-06
7847 53 I/V 130 rs1268176947 0.5815 None gnomAD-3.1.2 6.57E-06
7847 53 I/V 130 rs1268176947 0.5815 None gnomAD-4.0.0 4.95762E-06
7848 54 D/G 131 None 0.7780 None gnomAD-4.0.0 1.20032E-06
7850 56 I/F 135 None 0.3169 None gnomAD-4.0.0 1.20032E-06
7850 56 I/V 135 None 0.3169 None gnomAD-4.0.0 2.40064E-06
7851 57 A/T 136 rs1457271874 0.0991 None gnomAD-2.1.1 8.04E-06
7851 57 A/T 136 rs1457271874 0.0991 None gnomAD-4.0.0 4.77436E-06
7851 57 A/V 136 rs761381617 0.0991 None gnomAD-2.1.1 4.02E-06
7851 57 A/V 136 rs761381617 0.0991 None gnomAD-4.0.0 2.73699E-06
7852 58 T/A 137 None 0.2161 None gnomAD-4.0.0 2.05273E-06
7852 58 T/I 137 rs1183659807 0.2161 None gnomAD-3.1.2 6.57E-06
7852 58 T/I 137 rs1183659807 0.2161 None gnomAD-4.0.0 3.71838E-06
7853 59 L/F 138 rs776061262 0.0692 None gnomAD-2.1.1 8.04E-06
7853 59 L/F 138 rs776061262 0.0692 None gnomAD-4.0.0 3.18285E-06
7855 61 L/V 140 rs1364646771 0.2047 None gnomAD-2.1.1 3.19E-05
7855 61 L/V 140 rs1364646771 0.2047 None gnomAD-3.1.2 6.57E-06
7855 61 L/V 140 rs1364646771 0.2047 None gnomAD-4.0.0 2.56253E-06
7856 62 G/A 141 None 0.2891 None gnomAD-4.0.0 6.8425E-07
7856 62 G/E 141 rs919783694 0.2891 None gnomAD-2.1.1 4.02E-06
7856 62 G/E 141 rs919783694 0.2891 None gnomAD-3.1.2 6.58E-06
7856 62 G/E 141 rs919783694 0.2891 None gnomAD-4.0.0 8.67678E-06
7856 62 G/R 141 None 0.2891 None gnomAD-4.0.0 1.59148E-06
7857 63 S/T 143 None 0.5491 None gnomAD-4.0.0 1.20032E-06
7860 66 A/T 146 rs138076523 0.4198 None gnomAD-2.1.1 3.62E-05
7860 66 A/T 146 rs138076523 0.4198 None gnomAD-3.1.2 4.6E-05
7860 66 A/T 146 rs138076523 0.4198 None 1000 genomes 3.99361E-04
7860 66 A/T 146 rs138076523 0.4198 None gnomAD-4.0.0 7.25073E-05
7861 67 S/A 148 None 0.4840 None gnomAD-4.0.0 1.20033E-06
7862 68 N/T 149 rs794729629 0.2343 None gnomAD-2.1.1 4.03E-06
7862 68 N/T 149 rs794729629 0.2343 None gnomAD-4.0.0 1.5918E-06
7863 69 S/P 151 rs1553906488 0.2492 None gnomAD-4.0.0 4.10585E-06
7865 71 K/R 153 rs746952741 0.6959 None gnomAD-2.1.1 4.03E-06
7865 71 K/R 153 rs746952741 0.6959 None gnomAD-4.0.0 2.7373E-06
7866 72 Y/C 154 None 0.1622 None gnomAD-4.0.0 1.36864E-06
7866 72 Y/F 154 rs368684128 0.1622 None gnomAD-2.1.1 8.06E-06
7866 72 Y/F 154 rs368684128 0.1622 None gnomAD-3.1.2 6.57E-06
7866 72 Y/F 154 rs368684128 0.1622 None gnomAD-4.0.0 9.91682E-06
7867 73 I/M 155 rs1334032406 0.2168 None gnomAD-2.1.1 4.03E-06
7867 73 I/M 155 rs1334032406 0.2168 None gnomAD-4.0.0 2.73738E-06
7867 73 I/T 155 rs376689567 0.2168 None gnomAD-2.1.1 7.15E-06
7867 73 I/T 155 rs376689567 0.2168 None gnomAD-3.1.2 3.29E-05
7867 73 I/T 155 rs376689567 0.2168 None gnomAD-4.0.0 3.28688E-05
7867 73 I/V 155 rs1446627286 0.2168 None gnomAD-2.1.1 4.03E-06
7867 73 I/V 155 rs1446627286 0.2168 None gnomAD-4.0.0 2.05301E-06
7868 74 C/R 156 rs1158489320 0.0685 None gnomAD-3.1.2 1.31E-05
7868 74 C/R 156 rs1158489320 0.0685 None gnomAD-4.0.0 4.33878E-06
7870 76 I/N 158 None 0.0649 None gnomAD-4.0.0 2.40064E-06
7871 77 K/I 159 None 0.6148 None gnomAD-4.0.0 1.36896E-06
7872 78 N/H 161 None 0.1616 None gnomAD-4.0.0 1.59291E-06
7872 78 N/K 161 rs181206334 0.1616 None gnomAD-2.1.1 8.08E-06
7872 78 N/K 161 rs181206334 0.1616 None gnomAD-4.0.0 1.02683E-05
7872 78 N/S 161 rs746024262 0.1616 None gnomAD-2.1.1 8.08E-06
7872 78 N/S 161 rs746024262 0.1616 None gnomAD-4.0.0 1.36909E-06
7872 78 N/T 161 rs746024262 0.1616 None gnomAD-2.1.1 4.04E-06
7872 78 N/T 161 rs746024262 0.1616 None gnomAD-4.0.0 3.42274E-06
7873 79 D/G 162 None 1.0860 None gnomAD-4.0.0 1.59325E-06
7873 79 D/N 162 rs753929851 1.0860 None gnomAD-2.1.1 7.17E-06
7873 79 D/N 162 rs753929851 1.0860 None gnomAD-3.1.2 1.31E-05
7873 79 D/N 162 rs753929851 1.0860 None gnomAD-4.0.0 4.34016E-06
7874 80 A/V 163 None 0.6297 None gnomAD-4.0.0 3.18752E-06
7875 81 G/E 164 None 0.2620 None gnomAD-4.0.0 1.59444E-06
7876 82 M/I 165 None 0.6299 None gnomAD-4.0.0 3.19068E-06
7876 82 M/V 165 None 0.6299 None gnomAD-4.0.0 3.60097E-06
7879 85 C/F 169 None 0.0904 None gnomAD-4.0.0 1.59794E-06
7879 85 C/W 169 rs756600411 0.0904 None gnomAD-2.1.1 1.63E-05
7879 85 C/W 169 rs756600411 0.0904 None gnomAD-4.0.0 1.27795E-05
7879 85 C/Y 169 rs2078102033 0.0904 None gnomAD-4.0.0 1.59794E-06
7880 86 S/T 171 rs1158110251 0.3079 None gnomAD-2.1.1 4.07E-06
7880 86 S/T 171 rs1158110251 0.3079 None gnomAD-4.0.0 3.19568E-06
7881 87 A/V 172 None 0.1560 None gnomAD-4.0.0 1.59977E-06
7884 90 T/I 175 rs1180482059 0.3548 None gnomAD-2.1.1 4.13E-06
7884 90 T/I 175 rs1180482059 0.3548 None gnomAD-4.0.0 2.74767E-06
7885 91 V/A 178 rs2078098721 0.2832 None gnomAD-4.0.0 2.06364E-06
7885 91 V/L 178 rs1438134317 0.2832 None gnomAD-2.1.1 4.16E-06
7885 91 V/L 178 rs1438134317 0.2832 None gnomAD-4.0.0 3.22379E-06