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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 P
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

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
19878 2 P/S 2 rs752854931 0.1252 None gnomAD-4.0.0 1.60234E-06
19878 2 P/T 2 rs752854931 0.1252 None gnomAD-2.1.1 4.15E-06
19878 2 P/T 2 rs752854931 0.1252 None gnomAD-4.0.0 3.20467E-06
19879 3 G/E 3 rs745418262 0.2142 None gnomAD-2.1.1 1.24E-05
19879 3 G/E 3 rs745418262 0.2142 None gnomAD-4.0.0 4.80383E-06
19880 4 P/S 4 rs778795921 0.4395 None gnomAD-2.1.1 8.26E-06
19880 4 P/S 4 rs778795921 0.4395 None gnomAD-4.0.0 6.17335E-06
19880 4 P/T 4 None 0.4395 None gnomAD-4.0.0 1.37185E-06
19881 5 P/H 5 rs749276384 0.1264 None gnomAD-2.1.1 4.1E-06
19881 5 P/H 5 rs749276384 0.1264 None gnomAD-4.0.0 6.85353E-07
19881 5 P/R 5 None 0.1264 None gnomAD-4.0.0 1.37071E-06
19882 6 R/T 6 rs1309373929 0.2518 None gnomAD-2.1.1 4.1E-06
19882 6 R/T 6 rs1309373929 0.2518 None gnomAD-3.1.2 6.58E-06
19882 6 R/T 6 rs1309373929 0.2518 None gnomAD-4.0.0 2.56972E-06
19883 7 D/Y 7 rs1060500395 0.4709 None gnomAD-4.0.0 1.0963E-05
19885 9 E/K 11 rs777362856 0.6124 None gnomAD-2.1.1 1.23E-05
19885 9 E/K 11 rs777362856 0.6124 None gnomAD-4.0.0 5.4811E-06
19886 10 V/D 12 rs755949982 0.2712 None gnomAD-2.1.1 4.1E-06
19886 10 V/D 12 rs755949982 0.2712 None gnomAD-4.0.0 6.85091E-07
19886 10 V/G 12 rs755949982 0.2712 None gnomAD-2.1.1 5.33E-05
19886 10 V/G 12 rs755949982 0.2712 None gnomAD-3.1.2 4.6E-05
19886 10 V/G 12 rs755949982 0.2712 None gnomAD-4.0.0 8.25193E-05
19887 11 S/I 13 None 0.3429 None gnomAD-4.0.0 1.5964E-06
19887 11 S/R 13 rs748248730 0.3429 None gnomAD-2.1.1 8.2E-06
19887 11 S/R 13 rs748248730 0.3429 None gnomAD-4.0.0 1.64429E-05
19888 12 E/A 14 rs564006895 0.6366 None gnomAD-2.1.1 1.64E-05
19888 12 E/A 14 rs564006895 0.6366 None gnomAD-3.1.2 6.57E-06
19888 12 E/A 14 rs564006895 0.6366 None 1000 genomes 1.99681E-04
19888 12 E/A 14 rs564006895 0.6366 None gnomAD-4.0.0 1.42704E-05
19888 12 E/K 14 rs369279578 0.6366 None gnomAD-2.1.1 1.23E-05
19888 12 E/K 14 rs369279578 0.6366 None gnomAD-4.0.0 6.85213E-06
19890 14 R/T 16 rs751739372 0.5990 None gnomAD-2.1.1 2.91E-05
19890 14 R/T 16 rs751739372 0.5990 None gnomAD-3.1.2 1.32E-05
19890 14 R/T 16 rs751739372 0.5990 None gnomAD-4.0.0 7.70929E-06
19891 15 K/E 17 rs2050371739 0.5142 None gnomAD-4.0.0 3.19297E-06
19893 17 S/L 19 rs766590578 0.1250 None gnomAD-2.1.1 4.1E-06
19893 17 S/L 19 rs766590578 0.1250 None gnomAD-4.0.0 3.193E-06
19893 17 S/P 19 None 0.1250 None gnomAD-4.0.0 3.19289E-06
19895 19 Y/C 21 rs1355833226 0.3165 None gnomAD-2.1.1 4.1E-06
19895 19 Y/C 21 rs1355833226 0.3165 None gnomAD-4.0.0 4.78857E-06
19895 19 Y/S 21 rs1355833226 0.3165 None gnomAD-3.1.2 6.58E-06
19895 19 Y/S 21 rs1355833226 0.3165 None gnomAD-4.0.0 2.56883E-06
19896 20 L/F 22 rs763331392 0.0960 None gnomAD-3.1.2 1.32E-05
19896 20 L/F 22 rs763331392 0.0960 None gnomAD-4.0.0 1.86151E-06
19896 20 L/I 22 rs763331392 0.0960 None gnomAD-2.1.1 1.23E-05
19896 20 L/I 22 rs763331392 0.0960 None gnomAD-4.0.0 3.42562E-06
19896 20 L/P 22 None 0.0960 None gnomAD-4.0.0 3.42549E-06
19897 21 T/P 23 None 0.2756 None gnomAD-4.0.0 3.19186E-06
19898 22 W/C 24 rs750948166 0.1097 None gnomAD-2.1.1 4.09E-06
19898 22 W/C 24 rs750948166 0.1097 None gnomAD-3.1.2 1.32E-05
19898 22 W/C 24 rs750948166 0.1097 None gnomAD-4.0.0 6.42084E-06
19898 22 W/R 24 rs1415408093 0.1097 None gnomAD-2.1.1 3.19E-05
19898 22 W/R 24 rs1415408093 0.1097 None gnomAD-3.1.2 6.58E-06
19898 22 W/R 24 rs1415408093 0.1097 None gnomAD-4.0.0 6.57557E-06
19899 23 K/E 25 rs1450922913 0.4537 None gnomAD-3.1.2 6.58E-06
19899 23 K/E 25 rs1450922913 0.4537 None gnomAD-4.0.0 3.10186E-06
19900 24 E/D 26 rs1559600496 0.4429 None gnomAD-2.1.1 4.08E-06
19900 24 E/D 26 rs1559600496 0.4429 None gnomAD-4.0.0 1.59508E-06
19900 24 E/G 26 rs2050365298 0.4429 None gnomAD-3.1.2 6.58E-06
19900 24 E/G 26 rs2050365298 0.4429 None gnomAD-4.0.0 2.56759E-06
19902 26 L/V 28 None 0.8820 None gnomAD-4.0.0 1.59503E-06
19903 27 D/E 29 rs2154185463 0.5942 None gnomAD-4.0.0 1.59464E-06
19903 27 D/H 29 rs374163882 0.5942 None gnomAD-2.1.1 2.17E-05
19903 27 D/H 29 rs374163882 0.5942 None gnomAD-3.1.2 5.26E-05
19903 27 D/H 29 rs374163882 0.5942 None gnomAD-4.0.0 8.06444E-06
19903 27 D/N 29 rs374163882 0.5942 None gnomAD-4.0.0 3.42472E-06
19903 27 D/V 29 None 0.5942 None gnomAD-4.0.0 2.73975E-06
19904 28 D/G 30 rs1016296280 0.2757 None gnomAD-3.1.2 6.58E-06
19904 28 D/G 30 rs1016296280 0.2757 None gnomAD-4.0.0 2.03046E-06
19904 28 D/N 30 rs762301068 0.2757 None gnomAD-2.1.1 8.14E-06
19904 28 D/N 30 rs762301068 0.2757 None gnomAD-3.1.2 6.58E-06
19904 28 D/N 30 rs762301068 0.2757 None gnomAD-4.0.0 8.68416E-06
19905 29 G/D 31 None 0.2665 None gnomAD-4.0.0 6.84778E-07
19906 30 G/D 32 None 0.5977 None gnomAD-4.0.0 1.59453E-06
19906 30 G/S 32 None 0.5977 None gnomAD-4.0.0 1.16417E-05
19909 33 I/T 35 rs775088892 0.1640 None gnomAD-2.1.1 8.1E-06
19909 33 I/T 35 rs775088892 0.1640 None gnomAD-3.1.2 6.58E-06
19909 33 I/T 35 rs775088892 0.1640 None gnomAD-4.0.0 8.06124E-06
19909 33 I/V 35 rs1060500484 0.1640 None gnomAD-2.1.1 1.08E-05
19909 33 I/V 35 rs1060500484 0.1640 None gnomAD-3.1.2 2.63E-05
19909 33 I/V 35 rs1060500484 0.1640 None gnomAD-4.0.0 5.58099E-06
19910 34 T/I 36 rs369476725 0.2999 None gnomAD-2.1.1 1.49853E-04
19910 34 T/I 36 rs369476725 0.2999 None gnomAD-3.1.2 9.21E-05
19910 34 T/I 36 rs369476725 0.2999 None gnomAD-4.0.0 7.75146E-05
19911 35 N/H 37 None 0.2500 None gnomAD-4.0.0 6.84614E-07
19911 35 N/S 37 None 0.2500 None gnomAD-4.0.0 1.36922E-06
19912 36 Y/C 38 rs1251975601 0.1096 None gnomAD-2.1.1 8.1E-06
19912 36 Y/C 38 rs1251975601 0.1096 None gnomAD-3.1.2 6.58E-06
19912 36 Y/C 38 rs1251975601 0.1096 None gnomAD-4.0.0 4.34053E-06
19912 36 Y/S 38 None 0.1096 None gnomAD-4.0.0 6.84612E-07
19914 38 V/A 40 None 0.0892 None gnomAD-4.0.0 1.59322E-06
19914 38 V/I 40 rs1663045607 0.0892 None gnomAD-3.1.2 2.63E-05
19914 38 V/I 40 rs1663045607 0.0892 None gnomAD-4.0.0 4.34038E-06
19915 39 E/D 41 rs1278035797 0.1099 None gnomAD-2.1.1 4.04E-06
19915 39 E/D 41 rs1278035797 0.1099 None gnomAD-3.1.2 5.92E-05
19915 39 E/D 41 rs1278035797 0.1099 None gnomAD-4.0.0 1.28258E-05
19915 39 E/Q 41 rs1310177568 0.1099 None gnomAD-3.1.2 6.58E-06
19915 39 E/Q 41 rs1310177568 0.1099 None gnomAD-4.0.0 6.57938E-06
19916 40 R/K 42 None 0.2461 None gnomAD-4.0.0 6.84568E-07
19917 41 R/T 43 None 0.2625 None gnomAD-4.0.0 2.40064E-06
19919 43 V/A 50 None 0.4411 None gnomAD-4.0.0 3.60097E-06
19920 44 A/V 54 None 0.6524 None gnomAD-4.0.0 1.59311E-06
19921 45 S/T 60 rs749120617 0.3231 None gnomAD-2.1.1 8.08E-06
19921 45 S/T 60 rs749120617 0.3231 None gnomAD-3.1.2 6.58E-06
19921 45 S/T 60 rs749120617 0.3231 None gnomAD-4.0.0 2.4802E-06
19922 46 A/S 63 rs1054816991 0.7003 None gnomAD-2.1.1 4.04E-06
19922 46 A/S 63 rs1054816991 0.7003 None gnomAD-4.0.0 1.36911E-06
19922 46 A/T 63 rs1054816991 0.7003 None gnomAD-2.1.1 2.02E-05
19922 46 A/T 63 rs1054816991 0.7003 None gnomAD-4.0.0 1.09529E-05
19923 47 Q/H 64 rs2050348587 0.8589 None gnomAD-3.1.2 6.58E-06
19923 47 Q/H 64 rs2050348587 0.8589 None gnomAD-4.0.0 6.57947E-06
19924 48 W/R 65 None 0.2421 None gnomAD-4.0.0 6.84538E-07
19925 49 S/L 66 rs2050346497 0.2962 None gnomAD-3.1.2 6.58E-06
19925 49 S/L 66 rs2050346497 0.2962 None gnomAD-4.0.0 6.58354E-06
19926 50 P/H 67 rs2050345101 0.6213 None gnomAD-4.0.0 1.59299E-06
19926 50 P/T 67 rs1433509946 0.6213 None gnomAD-2.1.1 8.08E-06
19926 50 P/T 67 rs1433509946 0.6213 None gnomAD-4.0.0 3.18602E-06
19929 53 A/V 70 rs777824631 0.4922 None gnomAD-4.0.0 1.20032E-06
19930 54 T/A 75 rs200290906 0.6819 None gnomAD-4.0.0 6.84524E-07
19930 54 T/I 75 rs748016514 0.6819 None gnomAD-2.1.1 1.21E-05
19930 54 T/I 75 rs748016514 0.6819 None gnomAD-4.0.0 4.10724E-06
19930 54 T/P 75 rs200290906 0.6819 None gnomAD-2.1.1 4.04E-06
19930 54 T/P 75 rs200290906 0.6819 None gnomAD-4.0.0 6.84524E-07
19932 56 K/T 83 None 0.7973 None gnomAD-4.0.0 1.36903E-06
19934 58 K/N 89 rs1363638353 0.3683 None gnomAD-2.1.1 8.08E-06
19934 58 K/N 89 rs1363638353 0.3683 None gnomAD-4.0.0 3.18587E-06
19935 59 S/G 90 rs377276874 0.1768 None gnomAD-3.1.2 1.32E-05
19935 59 S/G 90 rs377276874 0.1768 None gnomAD-4.0.0 1.31565E-05
19935 59 S/N 90 None 0.1768 None gnomAD-4.0.0 2.05355E-06
19935 59 S/R 90 None 0.1768 None gnomAD-2.1.1 4.04E-06
19935 59 S/R 90 None 0.1768 None gnomAD-3.1.2 6.58E-06
19935 59 S/R 90 None 0.1768 None gnomAD-4.0.0 3.0453E-06
19937 61 F/S 92 rs2050339836 0.3122 None gnomAD-4.0.0 1.20032E-06
19938 62 A/T 93 rs755204306 0.0973 None gnomAD-2.1.1 8.07E-06
19938 62 A/T 93 rs755204306 0.0973 None gnomAD-3.1.2 1.32E-05
19938 62 A/T 93 rs755204306 0.0973 Other
Literature None
19938 62 A/T 93 rs755204306 0.0973 None gnomAD-4.0.0 3.59616E-05
19938 62 A/V 93 rs1187337182 0.0973 None gnomAD-2.1.1 1.43E-05
19938 62 A/V 93 rs1187337182 0.0973 None gnomAD-3.1.2 4.61E-05
19938 62 A/V 93 rs1187337182 0.0973 None gnomAD-4.0.0 7.25416E-05
19940 64 H/Q 96 None 0.8481 None gnomAD-4.0.0 5.47618E-06
19940 64 H/Y 96 rs192279089 0.8481 None gnomAD-2.1.1 7.17E-06
19940 64 H/Y 96 rs192279089 0.8481 None gnomAD-3.1.2 6.58E-06
19940 64 H/Y 96 rs192279089 0.8481 None gnomAD-4.0.0 8.06018E-06
19943 67 E/K 99 rs751863629 0.5223 None gnomAD-2.1.1 2.42E-05
19943 67 E/K 99 rs751863629 0.5223 None gnomAD-4.0.0 1.75228E-05
19944 68 G/D 100 rs1202165350 0.3353 None gnomAD-2.1.1 4.04E-06
19944 68 G/D 100 rs1202165350 0.3353 None gnomAD-4.0.0 3.1859E-06
19944 68 G/R 100 None 0.3353 None gnomAD-4.0.0 1.20032E-06
19945 69 N/I 102 None 0.3459 None gnomAD-4.0.0 1.59294E-06
19945 69 N/K 102 None 0.3459 None gnomAD-4.0.0 7.52974E-06
19946 70 Q/E 103 None 0.4432 None gnomAD-4.0.0 6.84517E-07
19946 70 Q/K 103 rs758522183 0.4432 None gnomAD-2.1.1 3.23E-05
19946 70 Q/K 103 rs758522183 0.4432 None gnomAD-3.1.2 6.58E-06
19946 70 Q/K 103 rs758522183 0.4432 None gnomAD-4.0.0 1.36397E-05
19946 70 Q/R 103 rs750885374 0.4432 None gnomAD-2.1.1 3.23E-05
19946 70 Q/R 103 rs750885374 0.4432 None gnomAD-3.1.2 6.57E-06
19946 70 Q/R 103 rs750885374 0.4432 None gnomAD-4.0.0 1.36393E-05
19947 71 Y/H 104 rs1288648449 0.1063 None gnomAD-2.1.1 4.03E-06
19947 71 Y/H 104 rs1288648449 0.1063 None gnomAD-4.0.0 1.59292E-06
19948 72 L/F 105 None 0.1943 None gnomAD-4.0.0 1.20032E-06
19949 73 F/L 106 None 0.1191 None gnomAD-4.0.0 1.20032E-06
19950 74 R/L 107 rs374914334 0.0969 None gnomAD-4.0.0 6.84528E-07
19950 74 R/Q 107 rs374914334 0.0969 None gnomAD-2.1.1 9.67E-05
19950 74 R/Q 107 rs374914334 0.0969 None gnomAD-3.1.2 1.11789E-04
19950 74 R/Q 107 rs374914334 0.0969 None gnomAD-4.0.0 1.14078E-04
19951 75 V/I 108 rs1576116840 0.0685 None gnomAD-4.0.0 3.18576E-06
19952 76 A/D 109 rs1314159875 0.0606 None gnomAD-2.1.1 4.03E-06
19952 76 A/D 109 rs1314159875 0.0606 None gnomAD-4.0.0 1.59291E-06
19952 76 A/S 109 rs1037724422 0.0606 None gnomAD-4.0.0 1.20032E-06
19953 77 A/V 110 rs754149259 0.0925 None gnomAD-2.1.1 2.02E-05
19953 77 A/V 110 rs754149259 0.0925 None gnomAD-3.1.2 6.58E-06
19953 77 A/V 110 rs754149259 0.0925 None gnomAD-4.0.0 3.34796E-05
19954 78 E/V 111 rs774004055 0.2756 None gnomAD-2.1.1 4.03E-06
19954 78 E/V 111 rs774004055 0.2756 None gnomAD-4.0.0 1.20032E-06
19955 79 N/I 112 None 0.0883 Other
Literature None
19957 81 Y/F 114 None 0.5894 None gnomAD-4.0.0 5.476E-06
19957 81 Y/H 114 rs772991524 0.5894 None gnomAD-2.1.1 1.21E-05
19957 81 Y/H 114 rs772991524 0.5894 None gnomAD-3.1.2 6.57E-06
19957 81 Y/H 114 rs772991524 0.5894 None gnomAD-4.0.0 1.53868E-05
19959 83 R/C 117 rs564432498 0.2972 None gnomAD-2.1.1 1.97652E-04
19959 83 R/C 117 rs564432498 0.2972 None gnomAD-3.1.2 6.58E-05
19959 83 R/C 117 rs564432498 0.2972 None 1000 genomes 1.19808E-03
19959 83 R/C 117 rs564432498 0.2972 None gnomAD-4.0.0 9.85676E-05
19959 83 R/H 117 rs748120315 0.2972 None gnomAD-2.1.1 1.61E-05
19959 83 R/H 117 rs748120315 0.2972 None gnomAD-3.1.2 6.58E-06
19959 83 R/H 117 rs748120315 0.2972 None gnomAD-4.0.0 2.66566E-05
19959 83 R/S 117 rs564432498 0.2972 None gnomAD-4.0.0 6.84504E-07
19960 84 G/C 118 None 0.1982 None gnomAD-4.0.0 6.84536E-07
19961 85 P/T 119 None 0.4360 None gnomAD-4.0.0 1.59297E-06
19962 86 F/L 120 rs2050323196 0.2569 None gnomAD-4.0.0 6.16102E-06
19962 86 F/S 120 rs878939618 0.2569 None gnomAD-3.1.2 1.31E-05
19962 86 F/S 120 rs878939618 0.2569 None gnomAD-4.0.0 1.31491E-05
19963 87 V/A 121 rs1553645836 0.2502 None gnomAD-4.0.0 4.80129E-06
19963 87 V/I 121 rs768578399 0.2502 None gnomAD-2.1.1 4.04E-06
19963 87 V/I 121 rs768578399 0.2502 None gnomAD-4.0.0 1.36913E-06
19964 88 E/K 122 rs918361300 0.3478 None gnomAD-4.0.0 3.4228E-06
19965 89 T/I 123 rs372266703 0.1894 None gnomAD-2.1.1 1.08E-05
19965 89 T/I 123 rs372266703 0.1894 None gnomAD-3.1.2 1.32E-05
19965 89 T/I 123 rs372266703 0.1894 None gnomAD-4.0.0 3.04514E-06
19966 90 P/L 124 None 0.7127 None gnomAD-4.0.0 1.59321E-06
19966 90 P/S 124 None 0.7127 None gnomAD-4.0.0 1.59315E-06
19966 90 P/T 124 rs2154185337 0.7127 None gnomAD-3.1.2 6.58E-06
19966 90 P/T 124 rs2154185337 0.7127 None gnomAD-4.0.0 6.57022E-06
19967 91 K/E 125 rs780485428 0.7984 None gnomAD-2.1.1 8.07E-06
19967 91 K/E 125 rs780485428 0.7984 None gnomAD-4.0.0 4.79194E-06
19968 92 P/R 126 None 0.3759 None gnomAD-4.0.0 1.20032E-06
19968 92 P/T 126 rs758407490 0.3759 None gnomAD-2.1.1 8.07E-06
19968 92 P/T 126 rs758407490 0.3759 None gnomAD-4.0.0 3.42279E-06
19969 93 I/V 127 rs1232358158 0.2576 None gnomAD-2.1.1 1.21E-05
19969 93 I/V 127 rs1232358158 0.2576 None gnomAD-4.0.0 3.42329E-06
19970 94 K/E 128 None 0.5852 None gnomAD-4.0.0 1.59358E-06
19971 95 A/T 130 rs1261750982 0.1200 None gnomAD-3.1.2 6.58E-06
19971 95 A/T 130 rs1261750982 0.1200 None gnomAD-4.0.0 6.5767E-06
19971 95 A/V 130 rs886055258 0.1200 None gnomAD-2.1.1 4.04E-06
19971 95 A/V 130 rs886055258 0.1200 None gnomAD-3.1.2 6.58E-06
19971 95 A/V 130 rs886055258 0.1200 None gnomAD-4.0.0 4.34075E-06
19972 96 L/F 131 rs1553645773 0.7902 None gnomAD-2.1.1 4.05E-06
19972 96 L/F 131 rs1553645773 0.7902 None gnomAD-4.0.0 3.18893E-06
19973 97 D/N 132 rs148353350 0.7666 None gnomAD-2.1.1 1.62E-05
19973 97 D/N 132 rs148353350 0.7666 None gnomAD-3.1.2 6.58E-06
19973 97 D/N 132 rs148353350 0.7666 None 1000 genomes 1.99681E-04
19973 97 D/N 132 rs148353350 0.7666 None gnomAD-4.0.0 5.58149E-06