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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 R P D P P E V T K V S K E E M T V V W N P P E Y D G G K S I T G Y F L E K K E K H S T R W V P V N K S A I P E R R M K V Q N L L P D H E Y Q F R V K A E N E I G I G E P S L P S R P V V A K D P I E P P G P P T N F R V V D T T K H S I T L G W G K P V Y D G G A P I I G Y V V E M R P K I A D A S P D E G W K R C N A A A Q L V R K E F T V T S L D E N Q E Y E F R V C A Q N Q V G I G R P A E L K E A I K P K E I
K P G R P D P P E V T K V S K E E M T V V W N P P E Y D G G K S I T G Y F L E K K E K H S T R W V P V N K S A I P E R R M K V Q N L L P D H E Y Q F R V K A E N E I G I G E P S L P S R P V V A K 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
20964 2 P/H 2 rs548460016 0.1483 None gnomAD-2.1.1 4.03E-06
20964 2 P/H 2 rs548460016 0.1483 None gnomAD-3.1.2 1.32E-05
20964 2 P/H 2 rs548460016 0.1483 None 1000 genomes 1.99681E-04
20964 2 P/H 2 rs548460016 0.1483 None gnomAD-4.0.0 9.91724E-06
20964 2 P/S 2 None 0.1483 None gnomAD-4.0.0 4.80129E-06
20965 3 G/D 3 None 0.2512 None gnomAD-4.0.0 1.20032E-06
20965 3 G/S 3 rs753424257 0.2512 None gnomAD-4.0.0 7.528E-06
20966 4 R/C 4 rs767887086 0.5772 None gnomAD-2.1.1 4.03E-06
20966 4 R/C 4 rs767887086 0.5772 None gnomAD-3.1.2 1.32E-05
20966 4 R/C 4 rs767887086 0.5772 None gnomAD-4.0.0 9.91825E-06
20966 4 R/G 4 None 0.5772 None gnomAD-4.0.0 1.36874E-06
20966 4 R/H 4 rs1174185176 0.5772 None gnomAD-2.1.1 8.06E-06
20966 4 R/H 4 rs1174185176 0.5772 None gnomAD-3.1.2 6.58E-06
20966 4 R/H 4 rs1174185176 0.5772 None gnomAD-4.0.0 6.19891E-06
20967 5 P/A 5 None 0.1357 None gnomAD-4.0.0 1.36872E-06
20969 7 P/A 7 rs1176453673 0.4390 None gnomAD-3.1.2 6.58E-06
20969 7 P/A 7 rs1176453673 0.4390 None gnomAD-4.0.0 3.71922E-06
20969 7 P/L 7 rs1479518856 0.4390 None gnomAD-2.1.1 4.03E-06
20969 7 P/L 7 rs1479518856 0.4390 None gnomAD-4.0.0 1.59209E-06
20969 7 P/S 7 rs1176453673 0.4390 None gnomAD-2.1.1 1.61E-05
20969 7 P/S 7 rs1176453673 0.4390 None gnomAD-4.0.0 1.36872E-06
20970 8 P/L 9 None 0.1580 None gnomAD-4.0.0 1.36876E-06
20971 9 E/Q 11 None 0.6015 None gnomAD-4.0.0 5.47497E-06
20972 10 V/F 12 None 0.2049 None gnomAD-4.0.0 1.20032E-06
20973 11 T/A 13 rs374657513 0.4070 None gnomAD-2.1.1 4.03E-06
20973 11 T/A 13 rs374657513 0.4070 None gnomAD-4.0.0 3.18432E-06
20973 11 T/P 13 rs374657513 0.4070 None gnomAD-2.1.1 4.03E-06
20973 11 T/P 13 rs374657513 0.4070 None gnomAD-4.0.0 1.59216E-06
20974 12 K/E 14 rs370100134 0.7114 None gnomAD-2.1.1 4.03E-06
20974 12 K/E 14 rs370100134 0.7114 None gnomAD-3.1.2 6.58E-06
20974 12 K/E 14 rs370100134 0.7114 None gnomAD-4.0.0 8.67813E-06
20974 12 K/N 14 None 0.7114 None gnomAD-4.0.0 1.59222E-06
20975 13 V/A 15 rs758558735 0.3022 None gnomAD-2.1.1 4.03E-06
20975 13 V/A 15 rs758558735 0.3022 None gnomAD-4.0.0 1.59228E-06
20975 13 V/E 15 rs758558735 0.3022 None gnomAD-2.1.1 4.03E-06
20975 13 V/E 15 rs758558735 0.3022 None gnomAD-4.0.0 1.59228E-06
20976 14 S/R 16 rs1225927295 0.1558 None gnomAD-2.1.1 4.03E-06
20976 14 S/R 16 rs1225927295 0.1558 None gnomAD-4.0.0 3.42197E-06
20978 16 E/K 18 None 0.4961 None gnomAD-4.0.0 3.60097E-06
20979 17 E/A 19 rs375728230 0.3179 None gnomAD-2.1.1 4.03E-06
20979 17 E/A 19 rs375728230 0.3179 None gnomAD-4.0.0 1.36917E-06
20979 17 E/D 19 None 0.3179 None gnomAD-4.0.0 2.05318E-06
20979 17 E/G 19 rs375728230 0.3179 None gnomAD-2.1.1 4.03E-06
20979 17 E/G 19 rs375728230 0.3179 None gnomAD-4.0.0 6.84584E-07
20979 17 E/K 19 None 0.3179 None gnomAD-4.0.0 6.84585E-07
20979 17 E/Q 19 rs1306891128 0.3179 None gnomAD-2.1.1 4.03E-06
20979 17 E/Q 19 rs1306891128 0.3179 None gnomAD-4.0.0 6.84585E-07
20980 18 M/K 20 rs757789191 0.0817 None gnomAD-2.1.1 7.15E-06
20980 18 M/K 20 rs757789191 0.0817 None gnomAD-3.1.2 6.58E-06
20980 18 M/K 20 rs757789191 0.0817 None gnomAD-4.0.0 1.23975E-06
20980 18 M/T 20 rs757789191 0.0817 None gnomAD-2.1.1 8.05E-06
20980 18 M/T 20 rs757789191 0.0817 None gnomAD-4.0.0 1.02657E-05
20981 19 T/P 21 rs1412315320 0.2329 None gnomAD-4.0.0 1.36876E-06
20982 20 V/L 22 None 0.0838 None gnomAD-4.0.0 1.20032E-06
20983 21 V/G 23 None 0.2509 None gnomAD-4.0.0 1.20032E-06
20983 21 V/L 23 rs878904625 0.2509 None gnomAD-2.1.1 4.03E-06
20985 23 N/K 25 None 0.6065 None gnomAD-4.0.0 1.20032E-06
20988 26 E/A 28 rs2049605788 1.1186 None gnomAD-3.1.2 6.58E-06
20988 26 E/A 28 rs2049605788 1.1186 None gnomAD-4.0.0 1.41002E-05
20989 27 Y/H 29 rs1338725751 0.5922 None gnomAD-2.1.1 4.03E-06
20989 27 Y/H 29 rs1338725751 0.5922 None gnomAD-4.0.0 1.59226E-06
20990 28 D/V 30 rs1466596917 0.2476 None gnomAD-2.1.1 1.21E-05
20990 28 D/V 30 rs1466596917 0.2476 None gnomAD-4.0.0 6.3688E-06
20991 29 G/A 31 rs368910900 0.2347 None gnomAD-2.1.1 7.15E-06
20991 29 G/A 31 rs368910900 0.2347 None gnomAD-3.1.2 6.58E-06
20991 29 G/A 31 rs368910900 0.2347 None gnomAD-4.0.0 6.57964E-06
20991 29 G/S 31 rs1158285735 0.2347 None gnomAD-2.1.1 4.03E-06
20991 29 G/S 31 rs1158285735 0.2347 None gnomAD-4.0.0 1.36882E-06
20993 31 K/N 33 rs775732427 0.3564 None gnomAD-2.1.1 4.02E-06
20993 31 K/N 33 rs775732427 0.3564 None gnomAD-3.1.2 6.58E-06
20993 31 K/N 33 rs775732427 0.3564 None gnomAD-4.0.0 6.57575E-06
20993 31 K/Q 33 rs2049601755 0.3564 None gnomAD-3.1.2 6.58E-06
20993 31 K/Q 33 rs2049601755 0.3564 None gnomAD-4.0.0 6.57626E-06
20993 31 K/R 33 None 0.3564 None gnomAD-4.0.0 2.40065E-06
20994 32 S/T 34 None 0.6973 None gnomAD-4.0.0 1.59224E-06
20995 33 I/T 35 rs1275723419 0.1905 None gnomAD-4.0.0 1.30036E-05
20995 33 I/V 35 rs1322917551 0.1905 None gnomAD-2.1.1 3.19E-05
20995 33 I/V 35 rs1322917551 0.1905 None gnomAD-3.1.2 6.58E-06
20995 33 I/V 35 rs1322917551 0.1905 None gnomAD-4.0.0 6.57661E-06
20996 34 T/I 36 rs1178872023 0.3723 None gnomAD-2.1.1 4.02E-06
20996 34 T/I 36 rs1178872023 0.3723 None gnomAD-4.0.0 1.59225E-06
20998 36 Y/N 38 rs1344599451 0.1120 None gnomAD-3.1.2 6.58E-06
20998 36 Y/N 38 rs1344599451 0.1120 None gnomAD-4.0.0 6.57765E-06
20999 37 F/L 39 rs568886353 0.2189 None gnomAD-4.0.0 1.36885E-06
20999 37 F/S 39 None 0.2189 None gnomAD-4.0.0 2.40064E-06
20999 37 F/V 39 rs568886353 0.2189 None gnomAD-2.1.1 2.5E-05
20999 37 F/V 39 rs568886353 0.2189 None gnomAD-3.1.2 3.29E-05
20999 37 F/V 39 rs568886353 0.2189 None 1000 genomes 1.99681E-04
20999 37 F/V 39 rs568886353 0.2189 None gnomAD-4.0.0 1.48771E-05
21000 38 L/F 40 rs772733348 0.0904 None gnomAD-2.1.1 4.02E-06
21000 38 L/F 40 rs772733348 0.0904 None gnomAD-4.0.0 2.73782E-06
21000 38 L/M 40 None 0.0904 None gnomAD-4.0.0 1.59246E-06
21003 41 K/N 43 rs794729472 0.1055 None gnomAD-4.0.0 7.52863E-06
21004 42 E/G 44 None 0.2815 None gnomAD-4.0.0 1.59233E-06
21004 42 E/K 44 rs769345390 0.2815 None gnomAD-2.1.1 4.02E-06
21004 42 E/K 44 rs769345390 0.2815 None gnomAD-4.0.0 1.59237E-06
21008 46 T/A 63 None 0.9500 None gnomAD-4.0.0 6.84427E-07
21008 46 T/I 63 rs72646850 0.9500 None gnomAD-2.1.1 9.0722E-03
21008 46 T/I 63 rs72646850 0.9500 None gnomAD-3.1.2 9.87409E-03
21008 46 T/I 63 rs72646850 0.9500 None 1000 genomes 5.79073E-03
21008 46 T/I 63 rs72646850 0.9500 None gnomAD-4.0.0 1.23667E-02
21008 46 T/R 63 rs72646850 0.9500 None gnomAD-2.1.1 4.02E-06
21008 46 T/R 63 rs72646850 0.9500 None gnomAD-4.0.0 1.36884E-06
21008 46 T/S 63 None 0.9500 None gnomAD-4.0.0 6.84427E-07
21009 47 R/Q 64 rs72646851 0.7469 None gnomAD-2.1.1 2.20094E-03
21009 47 R/Q 64 rs72646851 0.7469 None gnomAD-3.1.2 6.53947E-03
21009 47 R/Q 64 rs72646851 0.7469 None 1000 genomes 4.79233E-03
21009 47 R/Q 64 rs72646851 0.7469 None gnomAD-4.0.0 1.16664E-03
21010 48 W/C 65 rs779713577 0.2172 None gnomAD-2.1.1 4.02E-06
21010 48 W/C 65 rs779713577 0.2172 None gnomAD-4.0.0 1.59242E-06
21011 49 V/D 66 rs1553639384 0.3938 None gnomAD-4.0.0 2.40064E-06
21011 49 V/F 66 rs758606539 0.3938 None gnomAD-2.1.1 4.02E-06
21011 49 V/F 66 rs758606539 0.3938 None gnomAD-4.0.0 1.59243E-06
21011 49 V/I 66 None 0.3938 None gnomAD-2.1.1 4.02E-06
21011 49 V/L 66 rs758606539 0.3938 None gnomAD-3.1.2 6.58E-06
21011 49 V/L 66 rs758606539 0.3938 None gnomAD-4.0.0 2.56417E-06
21012 50 P/L 67 rs1476856667 0.5053 None gnomAD-3.1.2 6.58E-06
21012 50 P/L 67 rs1476856667 0.5053 None gnomAD-4.0.0 6.41017E-06
21012 50 P/S 67 None 0.5053 None gnomAD-4.0.0 2.40064E-06
21013 51 V/I 68 rs1559561777 0.2537 None gnomAD-2.1.1 4.02E-06
21013 51 V/I 68 rs1559561777 0.2537 None gnomAD-4.0.0 1.59243E-06
21014 52 N/S 69 rs746100195 0.1697 None gnomAD-2.1.1 8.05E-06
21014 52 N/S 69 rs746100195 0.1697 None gnomAD-4.0.0 3.18532E-06
21016 54 S/N 72 None 0.5362 None gnomAD-4.0.0 6.84504E-07
21016 54 S/T 72 rs1169239147 0.5362 None gnomAD-4.0.0 2.73802E-06
21018 56 I/S 77 rs2049585221 0.1767 None gnomAD-3.1.2 6.58E-06
21018 56 I/S 77 rs2049585221 0.1767 None gnomAD-4.0.0 6.58189E-06
21018 56 I/V 77 rs1288233039 0.1767 None gnomAD-2.1.1 4.03E-06
21018 56 I/V 77 rs1288233039 0.1767 None gnomAD-4.0.0 3.18568E-06
21022 60 R/C 90 rs779112015 0.6469 None gnomAD-2.1.1 4.05E-05
21022 60 R/C 90 rs779112015 0.6469 None gnomAD-3.1.2 6.58E-06
21022 60 R/C 90 rs779112015 0.6469 None gnomAD-4.0.0 1.98558E-05
21022 60 R/H 90 rs727503585 0.6469 None gnomAD-2.1.1 1.22393E-04
21022 60 R/H 90 rs727503585 0.6469 None gnomAD-3.1.2 6.58E-05
21022 60 R/H 90 rs727503585 0.6469 None gnomAD-4.0.0 3.59993E-05
21022 60 R/L 90 rs727503585 0.6469 None gnomAD-4.0.0 2.74134E-06
21023 61 M/I 91 rs1060500596 0.1708 None gnomAD-4.0.0 4.79745E-06
21023 61 M/K 91 rs754385637 0.1708 None gnomAD-2.1.1 2.43E-05
21023 61 M/K 91 rs754385637 0.1708 None gnomAD-4.0.0 8.22266E-06
21023 61 M/V 91 None 0.1708 None gnomAD-4.0.0 1.59669E-06
21025 63 V/I 93 rs369274001 0.1287 None gnomAD-2.1.1 6.14E-05
21025 63 V/I 93 rs369274001 0.1287 None gnomAD-3.1.2 1.97E-05
21025 63 V/I 93 rs369274001 0.1287 None 1000 genomes 1.99681E-04
21025 63 V/I 93 rs369274001 0.1287 None gnomAD-4.0.0 1.242E-05
21026 64 Q/H 94 rs1383048418 0.5385 None gnomAD-2.1.1 4.09E-06
21026 64 Q/H 94 rs1383048418 0.5385 None gnomAD-4.0.0 1.60215E-06
21026 64 Q/K 94 rs2049579414 0.5385 None gnomAD-3.1.2 6.58E-06
21026 64 Q/K 94 rs2049579414 0.5385 None gnomAD-4.0.0 6.57817E-06
21026 64 Q/R 94 rs2049578879 0.5385 None gnomAD-4.0.0 1.60147E-06
21028 66 L/F 97 rs756584422 0.1125 None gnomAD-2.1.1 4.1E-06
21028 66 L/F 97 rs756584422 0.1125 None gnomAD-4.0.0 1.60492E-06
21028 66 L/V 97 None 0.1125 None gnomAD-4.0.0 1.60492E-06
21029 67 L/F 98 None 0.5218 None gnomAD-4.0.0 1.60851E-06
21029 67 L/P 98 None 0.5218 None gnomAD-4.0.0 1.37496E-06
21030 68 P/L 99 rs886042482 0.3774 None gnomAD-4.0.0 6.87713E-07
21030 68 P/Q 99 rs886042482 0.3774 None gnomAD-2.1.1 1.24E-05
21030 68 P/Q 99 rs886042482 0.3774 None gnomAD-4.0.0 2.06314E-06
21030 68 P/R 99 None 0.3774 None gnomAD-4.0.0 1.37543E-06
21031 69 D/Y 100 None 0.7379 None gnomAD-4.0.0 1.6129E-06
21032 70 H/R 102 rs767798579 0.3854 None gnomAD-2.1.1 1.27E-05
21032 70 H/R 102 rs767798579 0.3854 None gnomAD-4.0.0 2.76421E-06
21033 71 E/K 103 None 0.2396 None gnomAD-4.0.0 6.9166E-07
21034 72 Y/C 104 None 0.1059 None gnomAD-4.0.0 3.26606E-06
21036 74 F/L 106 rs1031673060 0.1160 None gnomAD-4.0.0 1.64234E-06
21037 75 R/C 107 rs191549948 0.1549 None gnomAD-2.1.1 1.93998E-04
21037 75 R/C 107 rs191549948 0.1549 None gnomAD-3.1.2 1.97413E-04
21037 75 R/C 107 rs191549948 0.1549 None 1000 genomes 1.39776E-03
21037 75 R/C 107 rs191549948 0.1549 None gnomAD-4.0.0 9.08135E-05
21037 75 R/H 107 rs775651612 0.1549 None gnomAD-2.1.1 6.21E-05
21037 75 R/H 107 rs775651612 0.1549 None gnomAD-3.1.2 2.63E-05
21037 75 R/H 107 rs775651612 0.1549 None gnomAD-4.0.0 6.62807E-05
21038 76 V/F 108 rs886042629 0.0756 None gnomAD-2.1.1 4.45E-06
21038 76 V/F 108 rs886042629 0.0756 None gnomAD-4.0.0 1.67142E-06
21038 76 V/L 108 None 0.0756 None gnomAD-4.0.0 1.67142E-06
21039 77 K/T 109 rs886038878 0.2404 None gnomAD-2.1.1 8E-06
21039 77 K/T 109 rs886038878 0.2404 None gnomAD-3.1.2 9.21E-05
21039 77 K/T 109 rs886038878 0.2404 None gnomAD-4.0.0 2.43071E-05
21042 80 N/S 112 None 0.0992 None gnomAD-4.0.0 3.45328E-06
21044 82 I/T 114 rs529879601 0.6151 None gnomAD-2.1.1 2.5E-05
21044 82 I/T 114 rs529879601 0.6151 None gnomAD-3.1.2 1.32E-05
21044 82 I/T 114 rs529879601 0.6151 None 1000 genomes 1.99681E-04
21044 82 I/T 114 rs529879601 0.6151 None gnomAD-4.0.0 3.20527E-06
21044 82 I/V 114 rs1325938050 0.6151 None gnomAD-2.1.1 4.79E-06
21044 82 I/V 114 rs1325938050 0.6151 None gnomAD-4.0.0 1.73697E-06
21045 83 G/A 115 rs878968094 0.1564 None gnomAD-2.1.1 3.19E-05
21045 83 G/A 115 rs878968094 0.1564 None gnomAD-3.1.2 3.29E-05
21045 83 G/A 115 rs878968094 0.1564 None gnomAD-4.0.0 9.65152E-06
21045 83 G/R 115 None 0.1564 None gnomAD-4.0.0 1.74292E-06
21046 84 I/T 117 rs368868562 0.3653 None gnomAD-2.1.1 5.07E-05
21046 84 I/T 117 rs368868562 0.3653 None gnomAD-3.1.2 6.58E-05
21046 84 I/T 117 rs368868562 0.3653 None gnomAD-4.0.0 1.28462E-05
21047 85 G/E 118 None 0.1931 None gnomAD-4.0.0 1.75548E-06
21049 87 P/R 120 rs1559560525 0.3266 None gnomAD-2.1.1 5.03E-06
21049 87 P/R 120 rs1559560525 0.3266 None gnomAD-4.0.0 2.86209E-06
21049 87 P/S 120 None 0.3266 None gnomAD-4.0.0 1.77046E-06
21050 88 S/I 121 None 0.0943 None gnomAD-4.0.0 1.4335E-06
21050 88 S/T 121 None 0.0943 None gnomAD-4.0.0 1.1468E-05
21051 89 L/F 122 None 0.7666 None gnomAD-4.0.0 2.1566E-06
21051 89 L/S 122 None 0.7666 None gnomAD-4.0.0 1.78861E-06
21052 90 P/L 123 None 0.3896 None gnomAD-4.0.0 2.40064E-06
21054 92 R/G 125 rs746070034 0.7394 None gnomAD-2.1.1 5.27E-06
21054 92 R/G 125 rs746070034 0.7394 None gnomAD-4.0.0 1.44203E-05
21054 92 R/K 125 rs1164637816 0.7394 None gnomAD-2.1.1 2.11E-05
21054 92 R/K 125 rs1164637816 0.7394 None gnomAD-4.0.0 5.05051E-06
21055 93 P/L 126 rs779343098 0.3514 None gnomAD-2.1.1 1.08E-05
21055 93 P/L 126 rs779343098 0.3514 None gnomAD-4.0.0 7.32158E-06
21056 94 V/L 127 None 0.2319 None gnomAD-4.0.0 7.24987E-07
21056 94 V/M 127 None 0.2319 None gnomAD-4.0.0 2.17496E-06
21057 95 V/L 129 rs2049556477 0.2812 None gnomAD-3.1.2 6.58E-06
21057 95 V/L 129 rs2049556477 0.2812 None gnomAD-4.0.0 1.30692E-06
21057 95 V/M 129 rs2049556477 0.2812 None gnomAD-3.1.2 6.58E-06
21057 95 V/M 129 rs2049556477 0.2812 None gnomAD-4.0.0 2.61384E-06
21058 96 A/S 130 None 0.0648 None gnomAD-4.0.0 1.85014E-06
21059 97 K/E 131 None 0.5327 None gnomAD-4.0.0 1.45525E-06
21060 98 D/E 132 rs778030754 0.4561 None gnomAD-2.1.1 5.57E-06
21060 98 D/G 132 None 0.4561 None gnomAD-4.0.0 7.2868E-07
21060 98 D/H 132 None 0.4561 None gnomAD-4.0.0 1.85125E-06