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

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
20964 2 P/H 2 rs548460016 0.1329 None gnomAD-2.1.1 4.03E-06
20964 2 P/H 2 rs548460016 0.1329 None gnomAD-3.1.2 1.32E-05
20964 2 P/H 2 rs548460016 0.1329 None 1000 genomes 1.99681E-04
20964 2 P/H 2 rs548460016 0.1329 None gnomAD-4.0.0 9.91724E-06
20964 2 P/S 2 None 0.1329 None gnomAD-4.0.0 4.80129E-06
20965 3 G/D 3 None 0.2346 None gnomAD-4.0.0 1.20032E-06
20965 3 G/S 3 rs753424257 0.2346 None gnomAD-4.0.0 7.528E-06
20966 4 R/C 4 rs767887086 0.3982 None gnomAD-2.1.1 4.03E-06
20966 4 R/C 4 rs767887086 0.3982 None gnomAD-3.1.2 1.32E-05
20966 4 R/C 4 rs767887086 0.3982 None gnomAD-4.0.0 9.91825E-06
20966 4 R/G 4 None 0.3982 None gnomAD-4.0.0 1.36874E-06
20966 4 R/H 4 rs1174185176 0.3982 None gnomAD-2.1.1 8.06E-06
20966 4 R/H 4 rs1174185176 0.3982 None gnomAD-3.1.2 6.58E-06
20966 4 R/H 4 rs1174185176 0.3982 None gnomAD-4.0.0 6.19891E-06
20967 5 P/A 5 None 0.1034 None gnomAD-4.0.0 1.36872E-06
20969 7 P/A 7 rs1176453673 0.3903 None gnomAD-3.1.2 6.58E-06
20969 7 P/A 7 rs1176453673 0.3903 None gnomAD-4.0.0 3.71922E-06
20969 7 P/L 7 rs1479518856 0.3903 None gnomAD-2.1.1 4.03E-06
20969 7 P/L 7 rs1479518856 0.3903 None gnomAD-4.0.0 1.59209E-06
20969 7 P/S 7 rs1176453673 0.3903 None gnomAD-2.1.1 1.61E-05
20969 7 P/S 7 rs1176453673 0.3903 None gnomAD-4.0.0 1.36872E-06
20970 8 P/L 9 None 0.1283 None gnomAD-4.0.0 1.36876E-06
20971 9 E/Q 11 None 0.7308 None gnomAD-4.0.0 5.47497E-06
20972 10 V/F 12 None 0.2090 None gnomAD-4.0.0 1.20032E-06
20973 11 T/A 13 rs374657513 0.4815 None gnomAD-2.1.1 4.03E-06
20973 11 T/A 13 rs374657513 0.4815 None gnomAD-4.0.0 3.18432E-06
20973 11 T/P 13 rs374657513 0.4815 None gnomAD-2.1.1 4.03E-06
20973 11 T/P 13 rs374657513 0.4815 None gnomAD-4.0.0 1.59216E-06
20974 12 K/E 14 rs370100134 0.6961 None gnomAD-2.1.1 4.03E-06
20974 12 K/E 14 rs370100134 0.6961 None gnomAD-3.1.2 6.58E-06
20974 12 K/E 14 rs370100134 0.6961 None gnomAD-4.0.0 8.67813E-06
20974 12 K/N 14 None 0.6961 None gnomAD-4.0.0 1.59222E-06
20975 13 V/A 15 rs758558735 0.2214 None gnomAD-2.1.1 4.03E-06
20975 13 V/A 15 rs758558735 0.2214 None gnomAD-4.0.0 1.59228E-06
20975 13 V/E 15 rs758558735 0.2214 None gnomAD-2.1.1 4.03E-06
20975 13 V/E 15 rs758558735 0.2214 None gnomAD-4.0.0 1.59228E-06
20976 14 S/R 16 rs1225927295 0.1448 None gnomAD-2.1.1 4.03E-06
20976 14 S/R 16 rs1225927295 0.1448 None gnomAD-4.0.0 3.42197E-06
20978 16 E/K 18 None 0.5187 None gnomAD-4.0.0 3.60097E-06
20979 17 E/A 19 rs375728230 0.2887 None gnomAD-2.1.1 4.03E-06
20979 17 E/A 19 rs375728230 0.2887 None gnomAD-4.0.0 1.36917E-06
20979 17 E/D 19 None 0.2887 None gnomAD-4.0.0 2.05318E-06
20979 17 E/G 19 rs375728230 0.2887 None gnomAD-2.1.1 4.03E-06
20979 17 E/G 19 rs375728230 0.2887 None gnomAD-4.0.0 6.84584E-07
20979 17 E/K 19 None 0.2887 None gnomAD-4.0.0 6.84585E-07
20979 17 E/Q 19 rs1306891128 0.2887 None gnomAD-2.1.1 4.03E-06
20979 17 E/Q 19 rs1306891128 0.2887 None gnomAD-4.0.0 6.84585E-07
20980 18 M/K 20 rs757789191 0.0705 None gnomAD-2.1.1 7.15E-06
20980 18 M/K 20 rs757789191 0.0705 None gnomAD-3.1.2 6.58E-06
20980 18 M/K 20 rs757789191 0.0705 None gnomAD-4.0.0 1.23975E-06
20980 18 M/T 20 rs757789191 0.0705 None gnomAD-2.1.1 8.05E-06
20980 18 M/T 20 rs757789191 0.0705 None gnomAD-4.0.0 1.02657E-05
20981 19 T/P 21 rs1412315320 0.1917 None gnomAD-4.0.0 1.36876E-06
20982 20 V/L 22 None 0.0759 None gnomAD-4.0.0 1.20032E-06
20983 21 V/G 23 None 0.1892 None gnomAD-4.0.0 1.20032E-06
20983 21 V/L 23 rs878904625 0.1892 None gnomAD-2.1.1 4.03E-06
20985 23 N/K 25 None 0.6015 None gnomAD-4.0.0 1.20032E-06
20988 26 E/A 28 rs2049605788 1.1082 None gnomAD-3.1.2 6.58E-06
20988 26 E/A 28 rs2049605788 1.1082 None gnomAD-4.0.0 1.41002E-05
20989 27 Y/H 29 rs1338725751 0.5566 None gnomAD-2.1.1 4.03E-06
20989 27 Y/H 29 rs1338725751 0.5566 None gnomAD-4.0.0 1.59226E-06
20990 28 D/V 30 rs1466596917 0.2281 None gnomAD-2.1.1 1.21E-05
20990 28 D/V 30 rs1466596917 0.2281 None gnomAD-4.0.0 6.3688E-06
20991 29 G/A 31 rs368910900 0.0838 None gnomAD-2.1.1 7.15E-06
20991 29 G/A 31 rs368910900 0.0838 None gnomAD-3.1.2 6.58E-06
20991 29 G/A 31 rs368910900 0.0838 None gnomAD-4.0.0 6.57964E-06
20991 29 G/S 31 rs1158285735 0.0838 None gnomAD-2.1.1 4.03E-06
20991 29 G/S 31 rs1158285735 0.0838 None gnomAD-4.0.0 1.36882E-06
20993 31 K/N 33 rs775732427 0.2762 None gnomAD-2.1.1 4.02E-06
20993 31 K/N 33 rs775732427 0.2762 None gnomAD-3.1.2 6.58E-06
20993 31 K/N 33 rs775732427 0.2762 None gnomAD-4.0.0 6.57575E-06
20993 31 K/Q 33 rs2049601755 0.2762 None gnomAD-3.1.2 6.58E-06
20993 31 K/Q 33 rs2049601755 0.2762 None gnomAD-4.0.0 6.57626E-06
20993 31 K/R 33 None 0.2762 None gnomAD-4.0.0 2.40065E-06
20994 32 S/T 34 None 0.7013 None gnomAD-4.0.0 1.59224E-06
20995 33 I/T 35 rs1275723419 0.1855 None gnomAD-4.0.0 1.30036E-05
20995 33 I/V 35 rs1322917551 0.1855 None gnomAD-2.1.1 3.19E-05
20995 33 I/V 35 rs1322917551 0.1855 None gnomAD-3.1.2 6.58E-06
20995 33 I/V 35 rs1322917551 0.1855 None gnomAD-4.0.0 6.57661E-06
20996 34 T/I 36 rs1178872023 0.3672 None gnomAD-2.1.1 4.02E-06
20996 34 T/I 36 rs1178872023 0.3672 None gnomAD-4.0.0 1.59225E-06
20998 36 Y/N 38 rs1344599451 0.1023 None gnomAD-3.1.2 6.58E-06
20998 36 Y/N 38 rs1344599451 0.1023 None gnomAD-4.0.0 6.57765E-06
20999 37 F/L 39 rs568886353 0.2032 None gnomAD-4.0.0 1.36885E-06
20999 37 F/S 39 None 0.2032 None gnomAD-4.0.0 2.40064E-06
20999 37 F/V 39 rs568886353 0.2032 None gnomAD-2.1.1 2.5E-05
20999 37 F/V 39 rs568886353 0.2032 None gnomAD-3.1.2 3.29E-05
20999 37 F/V 39 rs568886353 0.2032 None 1000 genomes 1.99681E-04
20999 37 F/V 39 rs568886353 0.2032 None gnomAD-4.0.0 1.48771E-05
21000 38 L/F 40 rs772733348 0.0831 None gnomAD-2.1.1 4.02E-06
21000 38 L/F 40 rs772733348 0.0831 None gnomAD-4.0.0 2.73782E-06
21000 38 L/M 40 None 0.0831 None gnomAD-4.0.0 1.59246E-06
21003 41 K/N 43 rs794729472 0.1623 None gnomAD-4.0.0 7.52863E-06
21004 42 E/G 44 None 0.3070 None gnomAD-4.0.0 1.59233E-06
21004 42 E/K 44 rs769345390 0.3070 None gnomAD-2.1.1 4.02E-06
21004 42 E/K 44 rs769345390 0.3070 None gnomAD-4.0.0 1.59237E-06
21008 46 T/A 63 None 0.9670 None gnomAD-4.0.0 6.84427E-07
21008 46 T/I 63 rs72646850 0.9670 None gnomAD-2.1.1 9.0722E-03
21008 46 T/I 63 rs72646850 0.9670 None gnomAD-3.1.2 9.87409E-03
21008 46 T/I 63 rs72646850 0.9670 None 1000 genomes 5.79073E-03
21008 46 T/I 63 rs72646850 0.9670 None gnomAD-4.0.0 1.23667E-02
21008 46 T/R 63 rs72646850 0.9670 None gnomAD-2.1.1 4.02E-06
21008 46 T/R 63 rs72646850 0.9670 None gnomAD-4.0.0 1.36884E-06
21008 46 T/S 63 None 0.9670 None gnomAD-4.0.0 6.84427E-07
21009 47 R/Q 64 rs72646851 0.7675 None gnomAD-2.1.1 2.20094E-03
21009 47 R/Q 64 rs72646851 0.7675 None gnomAD-3.1.2 6.53947E-03
21009 47 R/Q 64 rs72646851 0.7675 None 1000 genomes 4.79233E-03
21009 47 R/Q 64 rs72646851 0.7675 None gnomAD-4.0.0 1.16664E-03
21010 48 W/C 65 rs779713577 0.2152 None gnomAD-2.1.1 4.02E-06
21010 48 W/C 65 rs779713577 0.2152 None gnomAD-4.0.0 1.59242E-06
21011 49 V/D 66 rs1553639384 0.4094 None gnomAD-4.0.0 2.40064E-06
21011 49 V/F 66 rs758606539 0.4094 None gnomAD-2.1.1 4.02E-06
21011 49 V/F 66 rs758606539 0.4094 None gnomAD-4.0.0 1.59243E-06
21011 49 V/I 66 None 0.4094 None gnomAD-2.1.1 4.02E-06
21011 49 V/L 66 rs758606539 0.4094 None gnomAD-3.1.2 6.58E-06
21011 49 V/L 66 rs758606539 0.4094 None gnomAD-4.0.0 2.56417E-06
21012 50 P/L 67 rs1476856667 0.5094 None gnomAD-3.1.2 6.58E-06
21012 50 P/L 67 rs1476856667 0.5094 None gnomAD-4.0.0 6.41017E-06
21012 50 P/S 67 None 0.5094 None gnomAD-4.0.0 2.40064E-06
21013 51 V/I 68 rs1559561777 0.2656 None gnomAD-2.1.1 4.02E-06
21013 51 V/I 68 rs1559561777 0.2656 None gnomAD-4.0.0 1.59243E-06
21014 52 N/S 69 rs746100195 0.1752 None gnomAD-2.1.1 8.05E-06
21014 52 N/S 69 rs746100195 0.1752 None gnomAD-4.0.0 3.18532E-06
21016 54 S/N 72 None 0.5652 None gnomAD-4.0.0 6.84504E-07
21016 54 S/T 72 rs1169239147 0.5652 None gnomAD-4.0.0 2.73802E-06
21018 56 I/S 77 rs2049585221 0.1730 None gnomAD-3.1.2 6.58E-06
21018 56 I/S 77 rs2049585221 0.1730 None gnomAD-4.0.0 6.58189E-06
21018 56 I/V 77 rs1288233039 0.1730 None gnomAD-2.1.1 4.03E-06
21018 56 I/V 77 rs1288233039 0.1730 None gnomAD-4.0.0 3.18568E-06
21022 60 R/C 90 rs779112015 0.4849 None gnomAD-2.1.1 4.05E-05
21022 60 R/C 90 rs779112015 0.4849 None gnomAD-3.1.2 6.58E-06
21022 60 R/C 90 rs779112015 0.4849 None gnomAD-4.0.0 1.98558E-05
21022 60 R/H 90 rs727503585 0.4849 None gnomAD-2.1.1 1.22393E-04
21022 60 R/H 90 rs727503585 0.4849 None gnomAD-3.1.2 6.58E-05
21022 60 R/H 90 rs727503585 0.4849 None gnomAD-4.0.0 3.59993E-05
21022 60 R/L 90 rs727503585 0.4849 None gnomAD-4.0.0 2.74134E-06
21023 61 M/I 91 rs1060500596 0.1475 None gnomAD-4.0.0 4.79745E-06
21023 61 M/K 91 rs754385637 0.1475 None gnomAD-2.1.1 2.43E-05
21023 61 M/K 91 rs754385637 0.1475 None gnomAD-4.0.0 8.22266E-06
21023 61 M/V 91 None 0.1475 None gnomAD-4.0.0 1.59669E-06
21025 63 V/I 93 rs369274001 0.1276 None gnomAD-2.1.1 6.14E-05
21025 63 V/I 93 rs369274001 0.1276 None gnomAD-3.1.2 1.97E-05
21025 63 V/I 93 rs369274001 0.1276 None 1000 genomes 1.99681E-04
21025 63 V/I 93 rs369274001 0.1276 None gnomAD-4.0.0 1.242E-05
21026 64 Q/H 94 rs1383048418 0.4938 None gnomAD-2.1.1 4.09E-06
21026 64 Q/H 94 rs1383048418 0.4938 None gnomAD-4.0.0 1.60215E-06
21026 64 Q/K 94 rs2049579414 0.4938 None gnomAD-3.1.2 6.58E-06
21026 64 Q/K 94 rs2049579414 0.4938 None gnomAD-4.0.0 6.57817E-06
21026 64 Q/R 94 rs2049578879 0.4938 None gnomAD-4.0.0 1.60147E-06
21028 66 L/F 97 rs756584422 0.1021 None gnomAD-2.1.1 4.1E-06
21028 66 L/F 97 rs756584422 0.1021 None gnomAD-4.0.0 1.60492E-06
21028 66 L/V 97 None 0.1021 None gnomAD-4.0.0 1.60492E-06
21029 67 L/F 98 None 0.5128 None gnomAD-4.0.0 1.60851E-06
21029 67 L/P 98 None 0.5128 None gnomAD-4.0.0 1.37496E-06
21030 68 P/L 99 rs886042482 0.3642 None gnomAD-4.0.0 6.87713E-07
21030 68 P/Q 99 rs886042482 0.3642 None gnomAD-2.1.1 1.24E-05
21030 68 P/Q 99 rs886042482 0.3642 None gnomAD-4.0.0 2.06314E-06
21030 68 P/R 99 None 0.3642 None gnomAD-4.0.0 1.37543E-06
21031 69 D/Y 100 None 0.7765 None gnomAD-4.0.0 1.6129E-06
21032 70 H/R 102 rs767798579 0.3804 None gnomAD-2.1.1 1.27E-05
21032 70 H/R 102 rs767798579 0.3804 None gnomAD-4.0.0 2.76421E-06
21033 71 E/K 103 None 0.2414 None gnomAD-4.0.0 6.9166E-07
21034 72 Y/C 104 None 0.1002 None gnomAD-4.0.0 3.26606E-06
21036 74 F/L 106 rs1031673060 0.1084 None gnomAD-4.0.0 1.64234E-06
21037 75 R/C 107 rs191549948 0.1391 None gnomAD-2.1.1 1.93998E-04
21037 75 R/C 107 rs191549948 0.1391 None gnomAD-3.1.2 1.97413E-04
21037 75 R/C 107 rs191549948 0.1391 None 1000 genomes 1.39776E-03
21037 75 R/C 107 rs191549948 0.1391 None gnomAD-4.0.0 9.08135E-05
21037 75 R/H 107 rs775651612 0.1391 None gnomAD-2.1.1 6.21E-05
21037 75 R/H 107 rs775651612 0.1391 None gnomAD-3.1.2 2.63E-05
21037 75 R/H 107 rs775651612 0.1391 None gnomAD-4.0.0 6.62807E-05
21038 76 V/F 108 rs886042629 0.0642 None gnomAD-2.1.1 4.45E-06
21038 76 V/F 108 rs886042629 0.0642 None gnomAD-4.0.0 1.67142E-06
21038 76 V/L 108 None 0.0642 None gnomAD-4.0.0 1.67142E-06
21039 77 K/T 109 rs886038878 0.2299 None gnomAD-2.1.1 8E-06
21039 77 K/T 109 rs886038878 0.2299 None gnomAD-3.1.2 9.21E-05
21039 77 K/T 109 rs886038878 0.2299 None gnomAD-4.0.0 2.43071E-05
21042 80 N/S 112 None 0.0891 None gnomAD-4.0.0 3.45328E-06
21044 82 I/T 114 rs529879601 0.3010 None gnomAD-2.1.1 2.5E-05
21044 82 I/T 114 rs529879601 0.3010 None gnomAD-3.1.2 1.32E-05
21044 82 I/T 114 rs529879601 0.3010 None 1000 genomes 1.99681E-04
21044 82 I/T 114 rs529879601 0.3010 None gnomAD-4.0.0 3.20527E-06
21044 82 I/V 114 rs1325938050 0.3010 None gnomAD-2.1.1 4.79E-06
21044 82 I/V 114 rs1325938050 0.3010 None gnomAD-4.0.0 1.73697E-06
21045 83 G/A 115 rs878968094 0.1495 None gnomAD-2.1.1 3.19E-05
21045 83 G/A 115 rs878968094 0.1495 None gnomAD-3.1.2 3.29E-05
21045 83 G/A 115 rs878968094 0.1495 None gnomAD-4.0.0 9.65152E-06
21045 83 G/R 115 None 0.1495 None gnomAD-4.0.0 1.74292E-06
21046 84 I/T 117 rs368868562 0.3532 None gnomAD-2.1.1 5.07E-05
21046 84 I/T 117 rs368868562 0.3532 None gnomAD-3.1.2 6.58E-05
21046 84 I/T 117 rs368868562 0.3532 None gnomAD-4.0.0 1.28462E-05
21047 85 G/E 118 None 0.1769 None gnomAD-4.0.0 1.75548E-06
21049 87 P/R 120 rs1559560525 0.2944 None gnomAD-2.1.1 5.03E-06
21049 87 P/R 120 rs1559560525 0.2944 None gnomAD-4.0.0 2.86209E-06
21049 87 P/S 120 None 0.2944 None gnomAD-4.0.0 1.77046E-06
21050 88 S/I 121 None 0.0757 None gnomAD-4.0.0 1.4335E-06
21050 88 S/T 121 None 0.0757 None gnomAD-4.0.0 1.1468E-05
21051 89 L/F 122 None 0.5653 None gnomAD-4.0.0 2.1566E-06
21051 89 L/S 122 None 0.5653 None gnomAD-4.0.0 1.78861E-06
21052 90 P/L 123 None 0.3509 None gnomAD-4.0.0 2.40064E-06
21054 92 R/G 125 rs746070034 0.7811 None gnomAD-2.1.1 5.27E-06
21054 92 R/G 125 rs746070034 0.7811 None gnomAD-4.0.0 1.44203E-05
21054 92 R/K 125 rs1164637816 0.7811 None gnomAD-2.1.1 2.11E-05
21054 92 R/K 125 rs1164637816 0.7811 None gnomAD-4.0.0 5.05051E-06
21055 93 P/L 126 rs779343098 0.3658 None gnomAD-2.1.1 1.08E-05
21055 93 P/L 126 rs779343098 0.3658 None gnomAD-4.0.0 7.32158E-06
21056 94 V/L 127 None 0.2178 None gnomAD-4.0.0 7.24987E-07
21056 94 V/M 127 None 0.2178 None gnomAD-4.0.0 2.17496E-06
21057 95 V/L 129 rs2049556477 0.2700 None gnomAD-3.1.2 6.58E-06
21057 95 V/L 129 rs2049556477 0.2700 None gnomAD-4.0.0 1.30692E-06
21057 95 V/M 129 rs2049556477 0.2700 None gnomAD-3.1.2 6.58E-06
21057 95 V/M 129 rs2049556477 0.2700 None gnomAD-4.0.0 2.61384E-06
21058 96 A/S 130 None 0.0638 None gnomAD-4.0.0 1.85014E-06
21059 97 K/E 131 None 0.5365 None gnomAD-4.0.0 1.45525E-06
21060 98 D/E 132 rs778030754 0.5479 None gnomAD-2.1.1 5.57E-06
21060 98 D/G 132 None 0.5479 None gnomAD-4.0.0 7.2868E-07
21060 98 D/H 132 None 0.5479 None gnomAD-4.0.0 1.85125E-06