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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
V P G P P G T P Q V T A V T K D S M T I S W H E P L S D G G S P I L G Y H V E R K E R N G I L W Q T V S K A L V P G N I F K S S G L T D G I A Y E F R V I A E N M A G K S K P S K P S E P M L A L D

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
23826 1 V/F 1 rs377751708 0.5392 None gnomAD-2.1.1 8.07E-06
23826 1 V/F 1 rs377751708 0.5392 None gnomAD-4.0.0 2.73806E-06
23826 1 V/L 1 rs377751708 0.5392 None gnomAD-2.1.1 1.61E-05
23826 1 V/L 1 rs377751708 0.5392 None gnomAD-4.0.0 2.87496E-05
23827 2 P/A 2 None 0.1506 None gnomAD-4.0.0 3.42253E-06
23827 2 P/L 2 None 0.1506 None gnomAD-4.0.0 1.20032E-06
23827 2 P/S 2 None 0.1506 None gnomAD-4.0.0 6.84507E-07
23827 2 P/T 2 rs756520908 0.1506 None gnomAD-2.1.1 4.03E-06
23827 2 P/T 2 rs756520908 0.1506 None gnomAD-4.0.0 1.36901E-06
23831 6 G/C 6 rs1200630554 0.2393 None gnomAD-2.1.1 4.04E-06
23831 6 G/C 6 rs1200630554 0.2393 None gnomAD-4.0.0 6.84588E-07
23831 6 G/V 6 rs746618179 0.2393 None gnomAD-2.1.1 4.04E-06
23831 6 G/V 6 rs746618179 0.2393 None gnomAD-4.0.0 4.78022E-06
23833 8 P/L 9 rs746871712 0.1479 None gnomAD-2.1.1 4.03E-06
23833 8 P/L 9 rs746871712 0.1479 None gnomAD-4.0.0 2.73803E-06
23834 9 Q/P 11 rs757958768 0.7693 None gnomAD-2.1.1 4.03E-06
23834 9 Q/P 11 rs757958768 0.7693 None gnomAD-4.0.0 2.73818E-06
23835 10 V/L 12 None 0.3191 None gnomAD-4.0.0 1.59281E-06
23836 11 T/S 13 None 0.5169 None gnomAD-4.0.0 1.59271E-06
23840 15 K/Q 17 None 0.3867 None gnomAD-4.0.0 1.20032E-06
23840 15 K/R 17 None 0.3867 None gnomAD-4.0.0 1.59235E-06
23841 16 D/H 18 rs764809055 0.4343 None gnomAD-2.1.1 1.21E-05
23841 16 D/H 18 rs764809055 0.4343 None gnomAD-3.1.2 6.58E-06
23841 16 D/H 18 rs764809055 0.4343 None gnomAD-4.0.0 3.7195E-06
23841 16 D/N 18 rs764809055 0.4343 None gnomAD-2.1.1 4.03E-06
23841 16 D/N 18 rs764809055 0.4343 None gnomAD-4.0.0 1.36887E-06
23841 16 D/Y 18 None 0.4343 None gnomAD-4.0.0 2.73774E-06
23843 18 M/I 20 None 0.0755 None gnomAD-4.0.0 1.36884E-06
23843 18 M/R 20 None 0.0755 None gnomAD-4.0.0 1.59228E-06
23843 18 M/T 20 rs757085121 0.0755 None gnomAD-2.1.1 4.03E-06
23843 18 M/T 20 rs757085121 0.0755 None gnomAD-4.0.0 3.18456E-06
23844 19 T/K 21 None 0.2056 None gnomAD-4.0.0 1.59218E-06
23844 19 T/P 21 rs753837961 0.2056 None gnomAD-2.1.1 4.03E-06
23844 19 T/P 21 rs753837961 0.2056 None gnomAD-4.0.0 3.18452E-06
23845 20 I/V 22 None 0.0797 None gnomAD-4.0.0 1.36872E-06
23846 21 S/G 23 rs763759336 0.2689 None gnomAD-2.1.1 4.03E-06
23846 21 S/G 23 rs763759336 0.2689 None gnomAD-4.0.0 2.73745E-06
23846 21 S/N 23 rs760506346 0.2689 None gnomAD-2.1.1 2.82E-05
23846 21 S/N 23 rs760506346 0.2689 None gnomAD-4.0.0 1.43723E-05
23846 21 S/R 23 rs763759336 0.2689 None gnomAD-3.1.2 6.57E-06
23846 21 S/R 23 rs763759336 0.2689 None gnomAD-4.0.0 6.57341E-06
23848 23 H/N 25 rs1171521240 0.9343 None gnomAD-2.1.1 4.03E-06
23848 23 H/N 25 rs1171521240 0.9343 None gnomAD-4.0.0 3.1839E-06
23848 23 H/Q 25 rs1026649081 0.9343 None gnomAD-3.1.2 2.63E-05
23848 23 H/Q 25 rs1026649081 0.9343 None gnomAD-4.0.0 4.33879E-06
23848 23 H/R 25 rs775670102 0.9343 None gnomAD-2.1.1 8.05E-06
23848 23 H/R 25 rs775670102 0.9343 None gnomAD-4.0.0 3.18386E-06
23849 24 E/K 26 None 0.5588 None gnomAD-4.0.0 1.59194E-06
23850 25 P/A 27 rs996458558 0.2124 None gnomAD-4.0.0 4.7903E-06
23851 26 L/P 28 None 1.3289 None gnomAD-4.0.0 1.20032E-06
23852 27 S/C 29 rs1177699712 0.5459 None gnomAD-2.1.1 4.03E-06
23852 27 S/C 29 rs1177699712 0.5459 None gnomAD-4.0.0 1.64235E-05
23853 28 D/H 30 None 0.3898 None gnomAD-4.0.0 1.20032E-06
23853 28 D/N 30 rs1387991752 0.3898 None gnomAD-3.1.2 6.57E-06
23853 28 D/N 30 rs1387991752 0.3898 None gnomAD-4.0.0 2.03E-06
23854 29 G/V 31 rs1472507638 0.3915 None gnomAD-2.1.1 4.03E-06
23854 29 G/V 31 rs1472507638 0.3915 None gnomAD-4.0.0 1.5918E-06
23856 31 S/R 33 rs1060500519 0.2262 None gnomAD-4.0.0 6.84309E-07
23857 32 P/L 34 None 0.6987 None gnomAD-4.0.0 1.59173E-06
23858 33 I/V 35 rs1401908315 0.2576 None gnomAD-3.1.2 6.57E-06
23858 33 I/V 35 rs1401908315 0.2576 None gnomAD-4.0.0 6.57376E-06
23861 36 Y/C 38 rs2154171639 0.1125 None gnomAD-4.0.0 1.20032E-06
23861 36 Y/H 38 rs759611506 0.1125 None gnomAD-2.1.1 1.21E-05
23861 36 Y/H 38 rs759611506 0.1125 None gnomAD-3.1.2 3.95E-05
23861 36 Y/H 38 rs759611506 0.1125 None gnomAD-4.0.0 9.29683E-06
23862 37 H/D 39 rs774224899 0.2481 None gnomAD-2.1.1 4.03E-06
23862 37 H/D 39 rs774224899 0.2481 None gnomAD-4.0.0 2.05286E-06
23862 37 H/Q 39 None 0.2481 None gnomAD-4.0.0 1.23171E-05
23862 37 H/R 39 rs576552787 0.2481 None gnomAD-2.1.1 1.21E-05
23862 37 H/R 39 rs576552787 0.2481 None gnomAD-3.1.2 1.97E-05
23862 37 H/R 39 rs576552787 0.2481 None 1000 genomes 1.99681E-04
23862 37 H/R 39 rs576552787 0.2481 None gnomAD-4.0.0 1.85918E-05
23863 38 V/I 40 rs367822322 0.0816 None gnomAD-3.1.2 6.57E-06
23863 38 V/I 40 rs367822322 0.0816 None gnomAD-4.0.0 6.57462E-06
23865 40 R/G 42 None 0.1374 None gnomAD-4.0.0 1.59169E-06
23865 40 R/I 42 rs1255670842 0.1374 None gnomAD-2.1.1 4.03E-06
23865 40 R/I 42 rs1255670842 0.1374 None gnomAD-4.0.0 1.59167E-06
23868 43 R/Q 50 rs763316990 0.6287 None gnomAD-2.1.1 8.05E-06
23868 43 R/Q 50 rs763316990 0.6287 None gnomAD-4.0.0 7.52714E-06
23869 44 N/K 54 rs1709390965 0.9651 None gnomAD-3.1.2 1.32E-05
23869 44 N/K 54 rs1709390965 0.9651 None gnomAD-4.0.0 3.09901E-06
23870 45 G/C 60 None 0.2769 None gnomAD-4.0.0 6.84282E-07
23870 45 G/S 60 rs727503564 0.2769 None gnomAD-2.1.1 1.43E-05
23870 45 G/S 60 rs727503564 0.2769 None gnomAD-3.1.2 1.97E-05
23870 45 G/S 60 rs727503564 0.2769 None gnomAD-4.0.0 1.30159E-05
23870 45 G/V 60 rs1709389326 0.2769 None gnomAD-4.0.0 3.42141E-06
23871 46 I/T 63 rs770250820 1.0076 None gnomAD-2.1.1 4.02E-06
23871 46 I/T 63 rs770250820 1.0076 None gnomAD-4.0.0 1.59163E-06
23873 48 W/C 65 None 0.2459 None gnomAD-4.0.0 1.59166E-06
23873 48 W/R 65 rs748571909 0.2459 None gnomAD-2.1.1 4.02E-06
23873 48 W/R 65 rs748571909 0.2459 None gnomAD-4.0.0 1.36856E-06
23874 49 Q/E 66 None 0.5899 None gnomAD-4.0.0 1.59168E-06
23874 49 Q/H 66 rs779839196 0.5899 None gnomAD-2.1.1 4.02E-06
23874 49 Q/H 66 rs779839196 0.5899 None gnomAD-4.0.0 1.59166E-06
23874 49 Q/R 66 None 0.5899 None gnomAD-4.0.0 1.20032E-06
23875 50 T/A 67 None 0.3857 None gnomAD-4.0.0 1.20032E-06
23875 50 T/N 67 rs771783837 0.3857 None gnomAD-2.1.1 2.82E-05
23875 50 T/N 67 rs771783837 0.3857 None gnomAD-3.1.2 6.57E-06
23875 50 T/N 67 rs771783837 0.3857 None gnomAD-4.0.0 1.73538E-05
23875 50 T/S 67 None 0.3857 None gnomAD-4.0.0 6.84281E-07
23877 52 S/N 69 rs1239475601 0.1502 None gnomAD-2.1.1 6.37E-05
23877 52 S/N 69 rs1239475601 0.1502 None gnomAD-3.1.2 1.97E-05
23877 52 S/N 69 rs1239475601 0.1502 None gnomAD-4.0.0 5.12552E-06
23879 54 A/P 72 rs778238304 0.6007 None gnomAD-2.1.1 4.02E-06
23879 54 A/P 72 rs778238304 0.6007 None gnomAD-4.0.0 2.05279E-06
23879 54 A/T 72 rs778238304 0.6007 None gnomAD-2.1.1 8.05E-06
23879 54 A/T 72 rs778238304 0.6007 None gnomAD-3.1.2 6.57E-06
23879 54 A/T 72 rs778238304 0.6007 None gnomAD-4.0.0 3.16072E-05
23879 54 A/V 72 rs566803857 0.6007 None gnomAD-4.0.0 1.20032E-06
23880 55 L/S 75 None 0.3024 None gnomAD-4.0.0 1.20032E-06
23881 56 V/A 77 None 0.1446 None gnomAD-4.0.0 1.20032E-06
23882 57 P/A 83 None 0.8453 None gnomAD-4.0.0 1.36852E-06
23882 57 P/R 83 rs1709373981 0.8453 None gnomAD-3.1.2 6.58E-06
23882 57 P/R 83 rs1709373981 0.8453 None gnomAD-4.0.0 6.5754E-06
23882 57 P/S 83 None 0.8453 None gnomAD-4.0.0 2.05279E-06
23883 58 G/S 88 None 0.2641 None gnomAD-4.0.0 3.60097E-06
23884 59 N/K 89 None 0.2129 None gnomAD-4.0.0 7.20193E-06
23888 63 S/P 93 None 0.1167 None gnomAD-4.0.0 1.20032E-06
23891 66 L/F 97 None 0.1147 None gnomAD-4.0.0 3.18331E-06
23891 66 L/P 97 None 0.1147 None gnomAD-4.0.0 1.20032E-06
23893 68 D/E 99 rs777818650 0.5489 None gnomAD-2.1.1 4.02E-06
23893 68 D/E 99 rs777818650 0.5489 None gnomAD-3.1.2 6.57E-06
23893 68 D/E 99 rs777818650 0.5489 None gnomAD-4.0.0 1.05362E-05
23893 68 D/N 99 rs753690633 0.5489 None gnomAD-2.1.1 1.61E-05
23893 68 D/N 99 rs753690633 0.5489 None gnomAD-3.1.2 1.31E-05
23893 68 D/N 99 rs753690633 0.5489 None gnomAD-4.0.0 1.54942E-05
23893 68 D/V 99 rs1449843654 0.5489 None gnomAD-2.1.1 4.02E-06
23893 68 D/V 99 rs1449843654 0.5489 None gnomAD-4.0.0 8.21141E-06
23894 69 G/C 100 None 0.2889 None gnomAD-4.0.0 6.84289E-06
23895 70 I/N 102 rs1208236175 0.2800 None gnomAD-2.1.1 3.19E-05
23895 70 I/N 102 rs1208236175 0.2800 None gnomAD-3.1.2 6.57E-06
23895 70 I/N 102 rs1208236175 0.2800 None gnomAD-4.0.0 1.23954E-06
23895 70 I/T 102 None 0.2800 None gnomAD-4.0.0 2.05283E-06
23897 72 Y/C 104 None 0.0922 None gnomAD-4.0.0 3.18341E-06
23897 72 Y/F 104 rs1457146309 0.0922 None gnomAD-2.1.1 4.02E-06
23897 72 Y/F 104 rs1457146309 0.0922 None gnomAD-4.0.0 1.5917E-06
23897 72 Y/N 104 rs1338027065 0.0922 None gnomAD-2.1.1 4.02E-06
23897 72 Y/S 104 rs1457146309 0.0922 None gnomAD-2.1.1 4.02E-06
23897 72 Y/S 104 rs1457146309 0.0922 None gnomAD-4.0.0 3.18341E-06
23898 73 E/G 105 None 0.1384 None gnomAD-4.0.0 1.20032E-06
23899 74 F/L 106 None 0.1283 None gnomAD-4.0.0 2.40064E-06
23900 75 R/P 107 None 0.1560 None gnomAD-4.0.0 6.84325E-07
23900 75 R/Q 107 rs369292052 0.1560 None gnomAD-2.1.1 2.86E-05
23900 75 R/Q 107 rs369292052 0.1560 None gnomAD-3.1.2 5.26E-05
23900 75 R/Q 107 rs369292052 0.1560 None gnomAD-4.0.0 5.08248E-05
23900 75 R/W 107 rs755894115 0.1560 None gnomAD-2.1.1 1.79E-05
23900 75 R/W 107 rs755894115 0.1560 None gnomAD-3.1.2 6.58E-06
23900 75 R/W 107 rs755894115 0.1560 None gnomAD-4.0.0 6.19835E-06
23901 76 V/M 108 None 0.0771 None gnomAD-4.0.0 1.36861E-06
23902 77 I/T 109 rs55837610 0.1424 None gnomAD-2.1.1 2.16956E-03
23902 77 I/T 109 rs55837610 0.1424 None gnomAD-3.1.2 2.01189E-03
23902 77 I/T 109 rs55837610 0.1424 None 1000 genomes 5.99042E-04
23902 77 I/T 109 rs55837610 0.1424 None gnomAD-4.0.0 2.89115E-03
23902 77 I/V 109 rs1160675688 0.1424 None gnomAD-2.1.1 4.03E-06
23902 77 I/V 109 rs1160675688 0.1424 None gnomAD-4.0.0 2.05294E-06
23903 78 A/E 110 None 0.0903 None gnomAD-4.0.0 6.84317E-07
23903 78 A/G 110 rs759693046 0.0903 None gnomAD-2.1.1 8.05E-06
23903 78 A/G 110 rs759693046 0.0903 None gnomAD-4.0.0 1.36863E-06
23903 78 A/T 110 rs767300259 0.0903 None gnomAD-2.1.1 2.5E-05
23903 78 A/T 110 rs767300259 0.0903 None gnomAD-3.1.2 4.6E-05
23903 78 A/T 110 rs767300259 0.0903 None gnomAD-4.0.0 6.19834E-06
23903 78 A/V 110 None 0.0903 None gnomAD-4.0.0 1.36863E-06
23904 79 E/K 111 rs267599038 0.1680 None gnomAD-4.0.0 3.18367E-06
23906 81 M/I 113 None 0.7804 None gnomAD-4.0.0 6.84324E-07
23906 81 M/T 113 None 0.7804 None gnomAD-4.0.0 5.47444E-06
23907 82 A/T 114 rs1309139547 0.4756 None gnomAD-2.1.1 3.19E-05
23908 83 G/D 115 rs540161344 0.1759 None gnomAD-2.1.1 7.15E-05
23908 83 G/D 115 rs540161344 0.1759 None gnomAD-3.1.2 1.97322E-04
23908 83 G/D 115 rs540161344 0.1759 None 1000 genomes 3.99361E-04
23908 83 G/D 115 rs540161344 0.1759 None gnomAD-4.0.0 5.5108E-05
23908 83 G/R 115 rs1417810577 0.1759 None gnomAD-3.1.2 6.57E-06
23908 83 G/R 115 rs1417810577 0.1759 None gnomAD-4.0.0 6.57462E-06
23909 84 K/E 117 rs557406526 0.3339 None gnomAD-2.1.1 4.03E-06
23909 84 K/E 117 rs557406526 0.3339 None gnomAD-4.0.0 1.59184E-06
23910 85 S/N 118 rs1060500509 0.1238 None gnomAD-2.1.1 4.03E-06
23910 85 S/N 118 rs1060500509 0.1238 None gnomAD-3.1.2 6.57E-06
23910 85 S/N 118 rs1060500509 0.1238 None gnomAD-4.0.0 2.4792E-06
23911 86 K/E 119 rs763131148 0.8603 None gnomAD-2.1.1 8.05E-06
23911 86 K/E 119 rs763131148 0.8603 None gnomAD-3.1.2 3.29E-05
23911 86 K/E 119 rs763131148 0.8603 None gnomAD-4.0.0 3.03697E-05
23911 86 K/Q 119 None 0.8603 None gnomAD-3.1.2 6.57E-06
23911 86 K/Q 119 None 0.8603 None gnomAD-4.0.0 6.57307E-06
23911 86 K/R 119 rs570788965 0.8603 None gnomAD-3.1.2 1.31E-05
23911 86 K/R 119 rs570788965 0.8603 None 1000 genomes 3.99361E-04
23911 86 K/R 119 rs570788965 0.8603 None gnomAD-4.0.0 3.84378E-06
23912 87 P/A 120 rs773568399 0.3500 None gnomAD-3.1.2 6.58E-06
23912 87 P/A 120 rs773568399 0.3500 None gnomAD-4.0.0 1.23964E-06
23912 87 P/T 120 None 0.3500 None gnomAD-2.1.1 1.43E-05
23912 87 P/T 120 None 0.3500 None gnomAD-3.1.2 1.32E-05
23912 87 P/T 120 None 0.3500 None gnomAD-4.0.0 1.0537E-05
23913 88 S/N 121 rs1709335824 0.1275 None gnomAD-4.0.0 1.59182E-06
23915 90 P/T 123 None 0.3781 None gnomAD-4.0.0 1.59179E-06
23916 91 S/L 124 rs1283305854 0.1486 None gnomAD-2.1.1 7.14E-06
23916 91 S/L 124 rs1283305854 0.1486 None gnomAD-3.1.2 6.58E-06
23916 91 S/L 124 rs1283305854 0.1486 None gnomAD-4.0.0 5.12584E-06
23919 94 M/R 127 rs769164762 0.3969 None gnomAD-2.1.1 4.02E-06
23919 94 M/T 127 None 0.3969 None gnomAD-4.0.0 2.40064E-06
23919 94 M/V 127 rs777077373 0.3969 None gnomAD-2.1.1 1.21E-05
23919 94 M/V 127 rs777077373 0.3969 None gnomAD-4.0.0 3.42137E-06
23920 95 L/S 129 None 0.5314 None gnomAD-4.0.0 1.59159E-06
23921 96 A/P 130 rs369272565 0.0605 None gnomAD-3.1.2 1.32E-05
23921 96 A/P 130 rs369272565 0.0605 None gnomAD-4.0.0 1.3155E-05
23921 96 A/V 130 rs745468509 0.0605 None gnomAD-2.1.1 8.04E-06
23921 96 A/V 130 rs745468509 0.0605 None gnomAD-4.0.0 3.18319E-06