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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
19878 2 P/S 2 rs752854931 0.1318 None gnomAD-4.0.0 1.60234E-06
19878 2 P/T 2 rs752854931 0.1318 None gnomAD-2.1.1 4.15E-06
19878 2 P/T 2 rs752854931 0.1318 None gnomAD-4.0.0 3.20467E-06
19879 3 G/E 3 rs745418262 0.2230 None gnomAD-2.1.1 1.24E-05
19879 3 G/E 3 rs745418262 0.2230 None gnomAD-4.0.0 4.80383E-06
19880 4 P/S 4 rs778795921 0.4335 None gnomAD-2.1.1 8.26E-06
19880 4 P/S 4 rs778795921 0.4335 None gnomAD-4.0.0 6.17335E-06
19880 4 P/T 4 None 0.4335 None gnomAD-4.0.0 1.37185E-06
19881 5 P/H 5 rs749276384 0.1306 None gnomAD-2.1.1 4.1E-06
19881 5 P/H 5 rs749276384 0.1306 None gnomAD-4.0.0 6.85353E-07
19881 5 P/R 5 None 0.1306 None gnomAD-4.0.0 1.37071E-06
19882 6 R/T 6 rs1309373929 0.2857 None gnomAD-2.1.1 4.1E-06
19882 6 R/T 6 rs1309373929 0.2857 None gnomAD-3.1.2 6.58E-06
19882 6 R/T 6 rs1309373929 0.2857 None gnomAD-4.0.0 2.56972E-06
19883 7 D/Y 7 rs1060500395 0.5085 None gnomAD-4.0.0 1.0963E-05
19885 9 E/K 11 rs777362856 0.6586 None gnomAD-2.1.1 1.23E-05
19885 9 E/K 11 rs777362856 0.6586 None gnomAD-4.0.0 5.4811E-06
19886 10 V/D 12 rs755949982 0.3151 None gnomAD-2.1.1 4.1E-06
19886 10 V/D 12 rs755949982 0.3151 None gnomAD-4.0.0 6.85091E-07
19886 10 V/G 12 rs755949982 0.3151 None gnomAD-2.1.1 5.33E-05
19886 10 V/G 12 rs755949982 0.3151 None gnomAD-3.1.2 4.6E-05
19886 10 V/G 12 rs755949982 0.3151 None gnomAD-4.0.0 8.25193E-05
19887 11 S/I 13 None 0.3562 None gnomAD-4.0.0 1.5964E-06
19887 11 S/R 13 rs748248730 0.3562 None gnomAD-2.1.1 8.2E-06
19887 11 S/R 13 rs748248730 0.3562 None gnomAD-4.0.0 1.64429E-05
19888 12 E/A 14 rs564006895 0.6054 None gnomAD-2.1.1 1.64E-05
19888 12 E/A 14 rs564006895 0.6054 None gnomAD-3.1.2 6.57E-06
19888 12 E/A 14 rs564006895 0.6054 None 1000 genomes 1.99681E-04
19888 12 E/A 14 rs564006895 0.6054 None gnomAD-4.0.0 1.42704E-05
19888 12 E/K 14 rs369279578 0.6054 None gnomAD-2.1.1 1.23E-05
19888 12 E/K 14 rs369279578 0.6054 None gnomAD-4.0.0 6.85213E-06
19890 14 R/T 16 rs751739372 0.5756 None gnomAD-2.1.1 2.91E-05
19890 14 R/T 16 rs751739372 0.5756 None gnomAD-3.1.2 1.32E-05
19890 14 R/T 16 rs751739372 0.5756 None gnomAD-4.0.0 7.70929E-06
19891 15 K/E 17 rs2050371739 0.3472 None gnomAD-4.0.0 3.19297E-06
19893 17 S/L 19 rs766590578 0.0987 None gnomAD-2.1.1 4.1E-06
19893 17 S/L 19 rs766590578 0.0987 None gnomAD-4.0.0 3.193E-06
19893 17 S/P 19 None 0.0987 None gnomAD-4.0.0 3.19289E-06
19895 19 Y/C 21 rs1355833226 0.3213 None gnomAD-2.1.1 4.1E-06
19895 19 Y/C 21 rs1355833226 0.3213 None gnomAD-4.0.0 4.78857E-06
19895 19 Y/S 21 rs1355833226 0.3213 None gnomAD-3.1.2 6.58E-06
19895 19 Y/S 21 rs1355833226 0.3213 None gnomAD-4.0.0 2.56883E-06
19896 20 L/F 22 rs763331392 0.0974 None gnomAD-3.1.2 1.32E-05
19896 20 L/F 22 rs763331392 0.0974 None gnomAD-4.0.0 1.86151E-06
19896 20 L/I 22 rs763331392 0.0974 None gnomAD-2.1.1 1.23E-05
19896 20 L/I 22 rs763331392 0.0974 None gnomAD-4.0.0 3.42562E-06
19896 20 L/P 22 None 0.0974 None gnomAD-4.0.0 3.42549E-06
19897 21 T/P 23 None 0.2930 None gnomAD-4.0.0 3.19186E-06
19898 22 W/C 24 rs750948166 0.1135 None gnomAD-2.1.1 4.09E-06
19898 22 W/C 24 rs750948166 0.1135 None gnomAD-3.1.2 1.32E-05
19898 22 W/C 24 rs750948166 0.1135 None gnomAD-4.0.0 6.42084E-06
19898 22 W/R 24 rs1415408093 0.1135 None gnomAD-2.1.1 3.19E-05
19898 22 W/R 24 rs1415408093 0.1135 None gnomAD-3.1.2 6.58E-06
19898 22 W/R 24 rs1415408093 0.1135 None gnomAD-4.0.0 6.57557E-06
19899 23 K/E 25 rs1450922913 0.4676 None gnomAD-3.1.2 6.58E-06
19899 23 K/E 25 rs1450922913 0.4676 None gnomAD-4.0.0 3.10186E-06
19900 24 E/D 26 rs1559600496 0.4672 None gnomAD-2.1.1 4.08E-06
19900 24 E/D 26 rs1559600496 0.4672 None gnomAD-4.0.0 1.59508E-06
19900 24 E/G 26 rs2050365298 0.4672 None gnomAD-3.1.2 6.58E-06
19900 24 E/G 26 rs2050365298 0.4672 None gnomAD-4.0.0 2.56759E-06
19902 26 L/V 28 None 0.9176 None gnomAD-4.0.0 1.59503E-06
19903 27 D/E 29 rs2154185463 0.6340 None gnomAD-4.0.0 1.59464E-06
19903 27 D/H 29 rs374163882 0.6340 None gnomAD-2.1.1 2.17E-05
19903 27 D/H 29 rs374163882 0.6340 None gnomAD-3.1.2 5.26E-05
19903 27 D/H 29 rs374163882 0.6340 None gnomAD-4.0.0 8.06444E-06
19903 27 D/N 29 rs374163882 0.6340 None gnomAD-4.0.0 3.42472E-06
19903 27 D/V 29 None 0.6340 None gnomAD-4.0.0 2.73975E-06
19904 28 D/G 30 rs1016296280 0.2447 None gnomAD-3.1.2 6.58E-06
19904 28 D/G 30 rs1016296280 0.2447 None gnomAD-4.0.0 2.03046E-06
19904 28 D/N 30 rs762301068 0.2447 None gnomAD-2.1.1 8.14E-06
19904 28 D/N 30 rs762301068 0.2447 None gnomAD-3.1.2 6.58E-06
19904 28 D/N 30 rs762301068 0.2447 None gnomAD-4.0.0 8.68416E-06
19905 29 G/D 31 None 0.3098 None gnomAD-4.0.0 6.84778E-07
19906 30 G/D 32 None 0.6095 None gnomAD-4.0.0 1.59453E-06
19906 30 G/S 32 None 0.6095 None gnomAD-4.0.0 1.16417E-05
19909 33 I/T 35 rs775088892 0.1905 None gnomAD-2.1.1 8.1E-06
19909 33 I/T 35 rs775088892 0.1905 None gnomAD-3.1.2 6.58E-06
19909 33 I/T 35 rs775088892 0.1905 None gnomAD-4.0.0 8.06124E-06
19909 33 I/V 35 rs1060500484 0.1905 None gnomAD-2.1.1 1.08E-05
19909 33 I/V 35 rs1060500484 0.1905 None gnomAD-3.1.2 2.63E-05
19909 33 I/V 35 rs1060500484 0.1905 None gnomAD-4.0.0 5.58099E-06
19910 34 T/I 36 rs369476725 0.3110 None gnomAD-2.1.1 1.49853E-04
19910 34 T/I 36 rs369476725 0.3110 None gnomAD-3.1.2 9.21E-05
19910 34 T/I 36 rs369476725 0.3110 None gnomAD-4.0.0 7.75146E-05
19911 35 N/H 37 None 0.1549 None gnomAD-4.0.0 6.84614E-07
19911 35 N/S 37 None 0.1549 None gnomAD-4.0.0 1.36922E-06
19912 36 Y/C 38 rs1251975601 0.1050 None gnomAD-2.1.1 8.1E-06
19912 36 Y/C 38 rs1251975601 0.1050 None gnomAD-3.1.2 6.58E-06
19912 36 Y/C 38 rs1251975601 0.1050 None gnomAD-4.0.0 4.34053E-06
19912 36 Y/S 38 None 0.1050 None gnomAD-4.0.0 6.84612E-07
19914 38 V/A 40 None 0.0910 None gnomAD-4.0.0 1.59322E-06
19914 38 V/I 40 rs1663045607 0.0910 None gnomAD-3.1.2 2.63E-05
19914 38 V/I 40 rs1663045607 0.0910 None gnomAD-4.0.0 4.34038E-06
19915 39 E/D 41 rs1278035797 0.1122 None gnomAD-2.1.1 4.04E-06
19915 39 E/D 41 rs1278035797 0.1122 None gnomAD-3.1.2 5.92E-05
19915 39 E/D 41 rs1278035797 0.1122 None gnomAD-4.0.0 1.28258E-05
19915 39 E/Q 41 rs1310177568 0.1122 None gnomAD-3.1.2 6.58E-06
19915 39 E/Q 41 rs1310177568 0.1122 None gnomAD-4.0.0 6.57938E-06
19916 40 R/K 42 None 0.1907 None gnomAD-4.0.0 6.84568E-07
19917 41 R/T 43 None 0.2088 None gnomAD-4.0.0 2.40064E-06
19919 43 V/A 50 None 0.4337 None gnomAD-4.0.0 3.60097E-06
19920 44 A/V 54 None 0.6548 None gnomAD-4.0.0 1.59311E-06
19921 45 S/T 60 rs749120617 0.2645 None gnomAD-2.1.1 8.08E-06
19921 45 S/T 60 rs749120617 0.2645 None gnomAD-3.1.2 6.58E-06
19921 45 S/T 60 rs749120617 0.2645 None gnomAD-4.0.0 2.4802E-06
19922 46 A/S 63 rs1054816991 0.6875 None gnomAD-2.1.1 4.04E-06
19922 46 A/S 63 rs1054816991 0.6875 None gnomAD-4.0.0 1.36911E-06
19922 46 A/T 63 rs1054816991 0.6875 None gnomAD-2.1.1 2.02E-05
19922 46 A/T 63 rs1054816991 0.6875 None gnomAD-4.0.0 1.09529E-05
19923 47 Q/H 64 rs2050348587 0.8339 None gnomAD-3.1.2 6.58E-06
19923 47 Q/H 64 rs2050348587 0.8339 None gnomAD-4.0.0 6.57947E-06
19924 48 W/R 65 None 0.2234 None gnomAD-4.0.0 6.84538E-07
19925 49 S/L 66 rs2050346497 0.3066 None gnomAD-3.1.2 6.58E-06
19925 49 S/L 66 rs2050346497 0.3066 None gnomAD-4.0.0 6.58354E-06
19926 50 P/H 67 rs2050345101 0.6525 None gnomAD-4.0.0 1.59299E-06
19926 50 P/T 67 rs1433509946 0.6525 None gnomAD-2.1.1 8.08E-06
19926 50 P/T 67 rs1433509946 0.6525 None gnomAD-4.0.0 3.18602E-06
19929 53 A/V 70 rs777824631 0.4635 None gnomAD-4.0.0 1.20032E-06
19930 54 T/A 75 rs200290906 0.6449 None gnomAD-4.0.0 6.84524E-07
19930 54 T/I 75 rs748016514 0.6449 None gnomAD-2.1.1 1.21E-05
19930 54 T/I 75 rs748016514 0.6449 None gnomAD-4.0.0 4.10724E-06
19930 54 T/P 75 rs200290906 0.6449 None gnomAD-2.1.1 4.04E-06
19930 54 T/P 75 rs200290906 0.6449 None gnomAD-4.0.0 6.84524E-07
19932 56 K/T 83 None 0.7213 None gnomAD-4.0.0 1.36903E-06
19934 58 K/N 89 rs1363638353 0.3991 None gnomAD-2.1.1 8.08E-06
19934 58 K/N 89 rs1363638353 0.3991 None gnomAD-4.0.0 3.18587E-06
19935 59 S/G 90 rs377276874 0.1697 None gnomAD-3.1.2 1.32E-05
19935 59 S/G 90 rs377276874 0.1697 None gnomAD-4.0.0 1.31565E-05
19935 59 S/N 90 None 0.1697 None gnomAD-4.0.0 2.05355E-06
19935 59 S/R 90 None 0.1697 None gnomAD-2.1.1 4.04E-06
19935 59 S/R 90 None 0.1697 None gnomAD-3.1.2 6.58E-06
19935 59 S/R 90 None 0.1697 None gnomAD-4.0.0 3.0453E-06
19937 61 F/S 92 rs2050339836 0.3025 None gnomAD-4.0.0 1.20032E-06
19938 62 A/T 93 rs755204306 0.0831 None gnomAD-2.1.1 8.07E-06
19938 62 A/T 93 rs755204306 0.0831 None gnomAD-3.1.2 1.32E-05
19938 62 A/T 93 rs755204306 0.0831 Other
Literature None
19938 62 A/T 93 rs755204306 0.0831 None gnomAD-4.0.0 3.59616E-05
19938 62 A/V 93 rs1187337182 0.0831 None gnomAD-2.1.1 1.43E-05
19938 62 A/V 93 rs1187337182 0.0831 None gnomAD-3.1.2 4.61E-05
19938 62 A/V 93 rs1187337182 0.0831 None gnomAD-4.0.0 7.25416E-05
19940 64 H/Q 96 None 0.7904 None gnomAD-4.0.0 5.47618E-06
19940 64 H/Y 96 rs192279089 0.7904 None gnomAD-2.1.1 7.17E-06
19940 64 H/Y 96 rs192279089 0.7904 None gnomAD-3.1.2 6.58E-06
19940 64 H/Y 96 rs192279089 0.7904 None gnomAD-4.0.0 8.06018E-06
19943 67 E/K 99 rs751863629 0.4364 None gnomAD-2.1.1 2.42E-05
19943 67 E/K 99 rs751863629 0.4364 None gnomAD-4.0.0 1.75228E-05
19944 68 G/D 100 rs1202165350 0.2629 None gnomAD-2.1.1 4.04E-06
19944 68 G/D 100 rs1202165350 0.2629 None gnomAD-4.0.0 3.1859E-06
19944 68 G/R 100 None 0.2629 None gnomAD-4.0.0 1.20032E-06
19945 69 N/I 102 None 0.3211 None gnomAD-4.0.0 1.59294E-06
19945 69 N/K 102 None 0.3211 None gnomAD-4.0.0 7.52974E-06
19946 70 Q/E 103 None 0.4219 None gnomAD-4.0.0 6.84517E-07
19946 70 Q/K 103 rs758522183 0.4219 None gnomAD-2.1.1 3.23E-05
19946 70 Q/K 103 rs758522183 0.4219 None gnomAD-3.1.2 6.58E-06
19946 70 Q/K 103 rs758522183 0.4219 None gnomAD-4.0.0 1.36397E-05
19946 70 Q/R 103 rs750885374 0.4219 None gnomAD-2.1.1 3.23E-05
19946 70 Q/R 103 rs750885374 0.4219 None gnomAD-3.1.2 6.57E-06
19946 70 Q/R 103 rs750885374 0.4219 None gnomAD-4.0.0 1.36393E-05
19947 71 Y/H 104 rs1288648449 0.0831 None gnomAD-2.1.1 4.03E-06
19947 71 Y/H 104 rs1288648449 0.0831 None gnomAD-4.0.0 1.59292E-06
19948 72 L/F 105 None 0.1858 None gnomAD-4.0.0 1.20032E-06
19949 73 F/L 106 None 0.1141 None gnomAD-4.0.0 1.20032E-06
19950 74 R/L 107 rs374914334 0.0855 None gnomAD-4.0.0 6.84528E-07
19950 74 R/Q 107 rs374914334 0.0855 None gnomAD-2.1.1 9.67E-05
19950 74 R/Q 107 rs374914334 0.0855 None gnomAD-3.1.2 1.11789E-04
19950 74 R/Q 107 rs374914334 0.0855 None gnomAD-4.0.0 1.14078E-04
19951 75 V/I 108 rs1576116840 0.0709 None gnomAD-4.0.0 3.18576E-06
19952 76 A/D 109 rs1314159875 0.0551 None gnomAD-2.1.1 4.03E-06
19952 76 A/D 109 rs1314159875 0.0551 None gnomAD-4.0.0 1.59291E-06
19952 76 A/S 109 rs1037724422 0.0551 None gnomAD-4.0.0 1.20032E-06
19953 77 A/V 110 rs754149259 0.0859 None gnomAD-2.1.1 2.02E-05
19953 77 A/V 110 rs754149259 0.0859 None gnomAD-3.1.2 6.58E-06
19953 77 A/V 110 rs754149259 0.0859 None gnomAD-4.0.0 3.34796E-05
19954 78 E/V 111 rs774004055 0.1946 None gnomAD-2.1.1 4.03E-06
19954 78 E/V 111 rs774004055 0.1946 None gnomAD-4.0.0 1.20032E-06
19955 79 N/I 112 None 0.0857 Other
Literature None
19957 81 Y/F 114 None 0.5710 None gnomAD-4.0.0 5.476E-06
19957 81 Y/H 114 rs772991524 0.5710 None gnomAD-2.1.1 1.21E-05
19957 81 Y/H 114 rs772991524 0.5710 None gnomAD-3.1.2 6.57E-06
19957 81 Y/H 114 rs772991524 0.5710 None gnomAD-4.0.0 1.53868E-05
19959 83 R/C 117 rs564432498 0.3083 None gnomAD-2.1.1 1.97652E-04
19959 83 R/C 117 rs564432498 0.3083 None gnomAD-3.1.2 6.58E-05
19959 83 R/C 117 rs564432498 0.3083 None 1000 genomes 1.19808E-03
19959 83 R/C 117 rs564432498 0.3083 None gnomAD-4.0.0 9.85676E-05
19959 83 R/H 117 rs748120315 0.3083 None gnomAD-2.1.1 1.61E-05
19959 83 R/H 117 rs748120315 0.3083 None gnomAD-3.1.2 6.58E-06
19959 83 R/H 117 rs748120315 0.3083 None gnomAD-4.0.0 2.66566E-05
19959 83 R/S 117 rs564432498 0.3083 None gnomAD-4.0.0 6.84504E-07
19960 84 G/C 118 None 0.1993 None gnomAD-4.0.0 6.84536E-07
19961 85 P/T 119 None 0.4256 None gnomAD-4.0.0 1.59297E-06
19962 86 F/L 120 rs2050323196 0.2207 None gnomAD-4.0.0 6.16102E-06
19962 86 F/S 120 rs878939618 0.2207 None gnomAD-3.1.2 1.31E-05
19962 86 F/S 120 rs878939618 0.2207 None gnomAD-4.0.0 1.31491E-05
19963 87 V/A 121 rs1553645836 0.3075 None gnomAD-4.0.0 4.80129E-06
19963 87 V/I 121 rs768578399 0.3075 None gnomAD-2.1.1 4.04E-06
19963 87 V/I 121 rs768578399 0.3075 None gnomAD-4.0.0 1.36913E-06
19964 88 E/K 122 rs918361300 0.2845 None gnomAD-4.0.0 3.4228E-06
19965 89 T/I 123 rs372266703 0.1892 None gnomAD-2.1.1 1.08E-05
19965 89 T/I 123 rs372266703 0.1892 None gnomAD-3.1.2 1.32E-05
19965 89 T/I 123 rs372266703 0.1892 None gnomAD-4.0.0 3.04514E-06
19966 90 P/L 124 None 0.7112 None gnomAD-4.0.0 1.59321E-06
19966 90 P/S 124 None 0.7112 None gnomAD-4.0.0 1.59315E-06
19966 90 P/T 124 rs2154185337 0.7112 None gnomAD-3.1.2 6.58E-06
19966 90 P/T 124 rs2154185337 0.7112 None gnomAD-4.0.0 6.57022E-06
19967 91 K/E 125 rs780485428 0.7588 None gnomAD-2.1.1 8.07E-06
19967 91 K/E 125 rs780485428 0.7588 None gnomAD-4.0.0 4.79194E-06
19968 92 P/R 126 None 0.3863 None gnomAD-4.0.0 1.20032E-06
19968 92 P/T 126 rs758407490 0.3863 None gnomAD-2.1.1 8.07E-06
19968 92 P/T 126 rs758407490 0.3863 None gnomAD-4.0.0 3.42279E-06
19969 93 I/V 127 rs1232358158 0.2264 None gnomAD-2.1.1 1.21E-05
19969 93 I/V 127 rs1232358158 0.2264 None gnomAD-4.0.0 3.42329E-06
19970 94 K/E 128 None 0.4143 None gnomAD-4.0.0 1.59358E-06
19971 95 A/T 130 rs1261750982 0.0751 None gnomAD-3.1.2 6.58E-06
19971 95 A/T 130 rs1261750982 0.0751 None gnomAD-4.0.0 6.5767E-06
19971 95 A/V 130 rs886055258 0.0751 None gnomAD-2.1.1 4.04E-06
19971 95 A/V 130 rs886055258 0.0751 None gnomAD-3.1.2 6.58E-06
19971 95 A/V 130 rs886055258 0.0751 None gnomAD-4.0.0 4.34075E-06
19972 96 L/F 131 rs1553645773 0.4746 None gnomAD-2.1.1 4.05E-06
19972 96 L/F 131 rs1553645773 0.4746 None gnomAD-4.0.0 3.18893E-06
19973 97 D/N 132 rs148353350 0.4491 None gnomAD-2.1.1 1.62E-05
19973 97 D/N 132 rs148353350 0.4491 None gnomAD-3.1.2 6.58E-06
19973 97 D/N 132 rs148353350 0.4491 None 1000 genomes 1.99681E-04
19973 97 D/N 132 rs148353350 0.4491 None gnomAD-4.0.0 5.58149E-06