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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
28943 2 P/L 2 rs917359469 0.1011 None gnomAD-2.1.1 3.19E-05
28943 2 P/L 2 rs917359469 0.1011 None gnomAD-3.1.2 1.32E-05
28943 2 P/L 2 rs917359469 0.1011 None gnomAD-4.0.0 3.8641E-06
28943 2 P/Q 2 rs917359469 0.1011 None gnomAD-2.1.1 4.12E-06
28943 2 P/Q 2 rs917359469 0.1011 None gnomAD-3.1.2 6.58E-06
28943 2 P/Q 2 rs917359469 0.1011 None gnomAD-4.0.0 2.57606E-06
28944 3 S/C 3 None 0.1272 None gnomAD-4.0.0 1.20032E-06
28944 3 S/R 3 rs550405800 0.1272 None gnomAD-2.1.1 4.11E-06
28944 3 S/R 3 rs550405800 0.1272 None gnomAD-4.0.0 1.5996E-06
28945 4 P/L 4 None 0.3038 None gnomAD-4.0.0 1.20033E-06
28945 4 P/T 4 None 0.3038 None gnomAD-4.0.0 1.5995E-06
28946 5 P/A 5 rs748587720 0.1075 None gnomAD-2.1.1 2.54E-05
28946 5 P/A 5 rs748587720 0.1075 None gnomAD-3.1.2 1.31E-05
28946 5 P/A 5 rs748587720 0.1075 None gnomAD-4.0.0 1.17935E-05
28946 5 P/H 5 rs777096362 0.1075 None gnomAD-2.1.1 4.1E-06
28946 5 P/H 5 rs777096362 0.1075 None gnomAD-4.0.0 3.1963E-06
28946 5 P/R 5 None 0.1075 None gnomAD-4.0.0 1.59814E-06
28946 5 P/S 5 rs748587720 0.1075 None gnomAD-2.1.1 4.1E-06
28948 7 K/N 7 rs768882533 0.7179 None gnomAD-2.1.1 4.08E-06
28948 7 K/N 7 rs768882533 0.7179 None gnomAD-4.0.0 1.59592E-06
28949 8 L/H 9 None 0.2055 None gnomAD-4.0.0 6.84979E-07
28949 8 L/P 9 rs745542033 0.2055 None gnomAD-3.1.2 1.31E-05
28949 8 L/P 9 rs745542033 0.2055 None gnomAD-4.0.0 4.3422E-06
28949 8 L/R 9 rs745542033 0.2055 None gnomAD-4.0.0 6.84979E-07
28950 9 G/E 11 rs778672490 0.2406 None gnomAD-2.1.1 1.22E-05
28950 9 G/E 11 rs778672490 0.2406 None gnomAD-3.1.2 1.97E-05
28950 9 G/E 11 rs778672490 0.2406 None gnomAD-4.0.0 1.2408E-05
28950 9 G/R 11 rs886044180 0.2406 None gnomAD-2.1.1 3.19E-05
28950 9 G/R 11 rs886044180 0.2406 None gnomAD-3.1.2 6.57E-06
28950 9 G/R 11 rs886044180 0.2406 None gnomAD-4.0.0 4.06001E-06
28951 10 V/E 12 rs1484448659 0.3413 None gnomAD-3.1.2 6.57E-06
28951 10 V/E 12 rs1484448659 0.3413 None gnomAD-4.0.0 6.57246E-06
28951 10 V/G 12 None 0.3413 None gnomAD-4.0.0 1.59537E-06
28951 10 V/L 12 rs878854426 0.3413 None gnomAD-4.0.0 6.84899E-07
28953 12 S/G 14 rs748750008 0.4266 None gnomAD-2.1.1 1.22E-05
28953 12 S/G 14 rs748750008 0.4266 None gnomAD-3.1.2 6.57E-06
28953 12 S/G 14 rs748750008 0.4266 None gnomAD-4.0.0 3.84841E-06
28953 12 S/N 14 rs1183912804 0.4266 None gnomAD-4.0.0 2.40064E-06
28953 12 S/R 14 rs748750008 0.4266 None gnomAD-2.1.1 4.06E-06
28953 12 S/R 14 rs748750008 0.4266 None gnomAD-4.0.0 3.18808E-06
28954 13 I/T 15 None 0.2106 None gnomAD-4.0.0 4.77916E-06
28957 16 D/E 18 rs777136109 0.3996 None gnomAD-2.1.1 4.04E-06
28957 16 D/E 18 rs777136109 0.3996 None gnomAD-4.0.0 3.18352E-06
28958 17 S/G 19 None 0.1663 None gnomAD-4.0.0 1.20032E-06
28958 17 S/N 19 rs199639729 0.1663 None gnomAD-2.1.1 4.66E-05
28958 17 S/N 19 rs199639729 0.1663 None gnomAD-3.1.2 3.94E-05
28958 17 S/N 19 rs199639729 0.1663 None gnomAD-4.0.0 5.63955E-05
28959 18 V/A 20 rs752544445 0.0881 None gnomAD-2.1.1 4.04E-06
28959 18 V/A 20 rs752544445 0.0881 None gnomAD-4.0.0 2.0528E-06
28961 20 L/P 22 rs1702379726 0.1035 None gnomAD-4.0.0 4.77456E-06
28964 23 L/P 25 rs781089608 0.4964 None gnomAD-2.1.1 8.06E-06
28964 23 L/P 25 rs781089608 0.4964 None gnomAD-4.0.0 1.59143E-06
28966 25 P/A 27 None 0.1585 None gnomAD-4.0.0 1.59145E-06
28966 25 P/S 27 rs1216201291 0.1585 None gnomAD-2.1.1 1.61E-05
28966 25 P/S 27 rs1216201291 0.1585 None gnomAD-4.0.0 6.3658E-06
28967 26 E/K 28 None 0.6855 None gnomAD-4.0.0 3.1828E-06
28968 27 H/P 29 rs754679595 0.4856 None gnomAD-3.1.2 6.57E-06
28968 27 H/P 29 rs754679595 0.4856 None gnomAD-4.0.0 1.23938E-06
28968 27 H/R 29 rs754679595 0.4856 None gnomAD-2.1.1 1.07E-05
28968 27 H/R 29 rs754679595 0.4856 None gnomAD-3.1.2 1.31E-05
28968 27 H/R 29 rs754679595 0.4856 None gnomAD-4.0.0 8.67563E-06
28969 28 D/E 30 rs139403831 0.2971 None gnomAD-2.1.1 2.01E-05
28969 28 D/E 30 rs139403831 0.2971 None gnomAD-3.1.2 1.31E-05
28969 28 D/E 30 rs139403831 0.2971 None gnomAD-4.0.0 1.23942E-05
28970 29 G/D 31 rs1575593866 0.1092 None gnomAD-3.1.2 6.57E-06
28970 29 G/D 31 rs1575593866 0.1092 None gnomAD-4.0.0 7.10465E-06
28971 30 G/R 32 rs368921501 0.2613 None gnomAD-2.1.1 5.36E-05
28971 30 G/R 32 rs368921501 0.2613 None gnomAD-3.1.2 8.55E-05
28971 30 G/R 32 rs368921501 0.2613 None gnomAD-4.0.0 2.04514E-05
28971 30 G/V 32 None 0.2613 None gnomAD-4.0.0 1.59142E-06
28972 31 S/N 33 None 0.1722 None gnomAD-4.0.0 1.36848E-06
28972 31 S/R 33 rs373312389 0.1722 None gnomAD-2.1.1 8.06E-06
28972 31 S/R 33 rs373312389 0.1722 None gnomAD-3.1.2 6.57E-06
28972 31 S/R 33 rs373312389 0.1722 None gnomAD-4.0.0 3.16044E-05
28973 32 R/K 34 None 0.8644 None gnomAD-4.0.0 1.20032E-06
28974 33 I/T 35 rs762434090 0.1854 None gnomAD-2.1.1 4.03E-06
28974 33 I/T 35 rs762434090 0.1854 None gnomAD-4.0.0 4.10538E-06
28975 34 V/L 36 None 0.4494 None gnomAD-4.0.0 1.59137E-06
28976 35 H/P 37 rs1392632968 0.2977 None gnomAD-2.1.1 4.03E-06
28976 35 H/P 37 rs1392632968 0.2977 None gnomAD-4.0.0 1.59137E-06
28976 35 H/R 37 rs1392632968 0.2977 None gnomAD-3.1.2 6.57E-06
28976 35 H/R 37 rs1392632968 0.2977 None gnomAD-4.0.0 1.31334E-05
28977 36 Y/C 38 rs776958326 0.1162 None gnomAD-2.1.1 4.03E-06
28977 36 Y/C 38 rs776958326 0.1162 None gnomAD-4.0.0 2.05267E-06
28977 36 Y/H 38 None 0.1162 None gnomAD-4.0.0 1.59134E-06
28978 37 V/A 39 None 0.1436 None gnomAD-4.0.0 6.15797E-06
28979 38 V/A 40 rs1702361151 0.1152 None gnomAD-4.0.0 1.59132E-06
28979 38 V/F 40 None 0.1152 None gnomAD-4.0.0 6.84219E-07
28979 38 V/I 40 rs201687390 0.1152 None gnomAD-2.1.1 2.00164E-04
28979 38 V/I 40 rs201687390 0.1152 None gnomAD-3.1.2 1.31458E-04
28979 38 V/I 40 rs201687390 0.1152 None gnomAD-4.0.0 1.40054E-04
28982 41 L/P 43 rs767470225 0.0988 None gnomAD-4.0.0 1.20032E-06
28983 42 E/Q 44 None 0.2538 None gnomAD-4.0.0 1.32035E-05
28985 44 G/R 51 rs748946057 0.6759 None gnomAD-2.1.1 3.19E-05
28985 44 G/R 51 rs748946057 0.6759 None gnomAD-3.1.2 6.57E-06
28985 44 G/R 51 rs748946057 0.6759 None gnomAD-4.0.0 1.59129E-06
28986 45 Q/H 60 rs777381679 0.6403 None gnomAD-2.1.1 8.05E-06
28986 45 Q/H 60 rs777381679 0.6403 None gnomAD-4.0.0 2.05263E-06
28986 45 Q/R 60 None 0.6403 None gnomAD-4.0.0 1.20032E-06
28987 46 K/R 63 rs1186947794 0.9823 None gnomAD-2.1.1 4.02E-06
28987 46 K/R 63 rs1186947794 0.9823 None gnomAD-3.1.2 6.57E-06
28987 46 K/R 63 rs1186947794 0.9823 None gnomAD-4.0.0 5.12438E-06
28992 51 C/G 68 rs769162510 0.3449 None gnomAD-4.0.0 1.36839E-06
28992 51 C/R 68 rs769162510 0.3449 None gnomAD-2.1.1 2.01E-05
28992 51 C/R 68 rs769162510 0.3449 None gnomAD-3.1.2 1.97E-05
28992 51 C/R 68 rs769162510 0.3449 None gnomAD-4.0.0 1.30135E-05
28992 51 C/Y 68 None 0.3449 None gnomAD-4.0.0 1.36839E-06
28993 52 A/T 69 rs1702352609 0.1898 None gnomAD-3.1.2 6.57E-06
28993 52 A/T 69 rs1702352609 0.1898 None gnomAD-4.0.0 2.02999E-06
28993 52 A/V 69 None 0.1898 None gnomAD-4.0.0 1.20032E-06
28994 53 V/A 70 rs1215210190 0.4194 None gnomAD-2.1.1 7.15E-06
28994 53 V/A 70 rs1215210190 0.4194 None gnomAD-3.1.2 6.57E-06
28994 53 V/A 70 rs1215210190 0.4194 None gnomAD-4.0.0 8.67559E-06
28994 53 V/L 70 None 0.4194 None gnomAD-4.0.0 2.40064E-06
28995 54 A/T 77 rs774191975 0.1260 None gnomAD-2.1.1 5.36E-05
28995 54 A/T 77 rs774191975 0.1260 None gnomAD-3.1.2 4.6E-05
28995 54 A/T 77 rs774191975 0.1260 None gnomAD-4.0.0 6.19691E-05
28995 54 A/V 77 rs754768962 0.1260 None gnomAD-2.1.1 8.05E-06
28995 54 A/V 77 rs754768962 0.1260 None gnomAD-4.0.0 3.18243E-06
28997 56 S/L 88 rs751293680 0.3695 None gnomAD-2.1.1 8.05E-06
28997 56 S/L 88 rs751293680 0.3695 None gnomAD-3.1.2 6.57E-06
28997 56 S/L 88 rs751293680 0.3695 None gnomAD-4.0.0 3.84326E-06
28998 57 T/A 89 None 0.2045 None gnomAD-4.0.0 1.59127E-06
28998 57 T/I 89 rs1206763274 0.2045 None gnomAD-4.0.0 1.20032E-06
28999 58 H/D 90 rs879148150 0.4931 None gnomAD-4.0.0 1.36842E-06
28999 58 H/Y 90 rs879148150 0.4931 None gnomAD-4.0.0 1.36842E-06
29000 59 H/Q 91 rs758683372 0.3458 None gnomAD-3.1.2 6.57E-06
29000 59 H/Q 91 rs758683372 0.3458 None gnomAD-4.0.0 6.57358E-06
29001 60 V/I 92 rs750591986 0.3697 None gnomAD-2.1.1 2.86E-05
29001 60 V/I 92 rs750591986 0.3697 None gnomAD-3.1.2 6.57E-06
29001 60 V/I 92 rs750591986 0.3697 None gnomAD-4.0.0 1.11547E-05
29003 62 S/C 94 None 0.6116 None gnomAD-4.0.0 1.59128E-06
29003 62 S/F 94 rs754378461 0.6116 None gnomAD-2.1.1 8.05E-06
29003 62 S/F 94 rs754378461 0.6116 None gnomAD-4.0.0 4.77383E-06
29004 63 G/R 96 None 0.5507 None gnomAD-4.0.0 1.23936E-06
29004 63 G/S 96 rs761251825 0.5507 None gnomAD-2.1.1 4.65E-05
29004 63 G/S 96 rs761251825 0.5507 None gnomAD-3.1.2 5.26E-05
29004 63 G/S 96 rs761251825 0.5507 None gnomAD-4.0.0 4.58598E-05
29006 65 R/T 98 rs1355128934 0.6680 None gnomAD-2.1.1 4.03E-06
29006 65 R/T 98 rs1355128934 0.6680 None gnomAD-4.0.0 6.36529E-06
29008 67 N/D 100 None 0.6314 None gnomAD-4.0.0 1.59132E-06
29010 69 E/A 103 rs1702336560 0.2816 None gnomAD-3.1.2 6.57E-06
29010 69 E/A 103 rs1702336560 0.2816 None gnomAD-4.0.0 2.56226E-06
29011 70 Y/H 104 rs2154156569 0.1129 None gnomAD-4.0.0 4.80129E-06
29012 71 F/L 105 None 0.2008 None gnomAD-4.0.0 1.5914E-06
29012 71 F/V 105 None 0.2008 None gnomAD-4.0.0 1.5914E-06
29013 72 F/S 106 rs1171065121 0.1097 None gnomAD-2.1.1 4.03E-06
29013 72 F/S 106 rs1171065121 0.1097 None gnomAD-4.0.0 1.59143E-06
29014 73 R/L 107 rs772536290 0.1105 None gnomAD-3.1.2 6.57E-06
29014 73 R/L 107 rs772536290 0.1105 None gnomAD-4.0.0 6.57142E-06
29014 73 R/P 107 rs772536290 0.1105 None gnomAD-4.0.0 6.84252E-07
29014 73 R/Q 107 None 0.1105 None gnomAD-2.1.1 1.61E-05
29014 73 R/Q 107 None 0.1105 None gnomAD-4.0.0 1.71063E-05
29015 74 V/A 108 None 0.0732 None gnomAD-4.0.0 1.59142E-06
29015 74 V/L 108 rs1665318547 0.0732 None gnomAD-3.1.2 6.57E-06
29015 74 V/L 108 rs1665318547 0.0732 None gnomAD-4.0.0 6.57272E-06
29015 74 V/M 108 rs1665318547 0.0732 None gnomAD-4.0.0 2.18955E-05
29017 76 A/T 110 rs727505050 0.0758 None gnomAD-4.0.0 2.05277E-06
29017 76 A/V 110 rs1454476732 0.0758 None gnomAD-2.1.1 4.03E-06
29017 76 A/V 110 rs1454476732 0.0758 None gnomAD-4.0.0 1.59147E-06
29018 77 E/K 111 None 0.2390 None gnomAD-4.0.0 4.7898E-06
29021 80 A/P 114 rs1237183961 0.3003 None gnomAD-2.1.1 4.03E-06
29021 80 A/P 114 rs1237183961 0.3003 None gnomAD-4.0.0 1.20032E-06
29021 80 A/V 114 rs1702326803 0.3003 None gnomAD-4.0.0 3.18317E-06
29022 81 G/D 115 rs1702325734 0.1765 None gnomAD-3.1.2 6.57E-06
29022 81 G/D 115 rs1702325734 0.1765 None gnomAD-4.0.0 2.02998E-06
29022 81 G/V 115 rs1702325734 0.1765 None gnomAD-3.1.2 6.57E-06
29022 81 G/V 115 rs1702325734 0.1765 None gnomAD-4.0.0 6.57376E-06
29025 84 D/H 119 rs1702323691 0.7738 None gnomAD-3.1.2 6.57E-06
29025 84 D/H 119 rs1702323691 0.7738 None gnomAD-4.0.0 2.56268E-06
29026 85 P/L 120 rs876658090 0.2634 None gnomAD-2.1.1 3.18E-05
29026 85 P/L 120 rs876658090 0.2634 None gnomAD-3.1.2 1.97E-05
29026 85 P/L 120 rs876658090 0.2634 None gnomAD-4.0.0 3.71874E-06
29027 86 R/K 121 rs763879330 0.4440 None gnomAD-2.1.1 4.03E-06
29027 86 R/K 121 rs763879330 0.4440 None gnomAD-4.0.0 3.42146E-06
29028 87 E/A 122 None 0.2841 None gnomAD-4.0.0 1.59191E-06
29030 89 L/P 124 None 1.1162 None gnomAD-4.0.0 1.59212E-06
29033 92 V/F 127 None 0.1789 None gnomAD-4.0.0 1.20032E-06
29035 94 I/T 130 rs768635896 0.0622 None gnomAD-2.1.1 2.03E-05
29035 94 I/T 130 rs768635896 0.0622 None gnomAD-3.1.2 6.57E-06
29035 94 I/T 130 rs768635896 0.0622 None gnomAD-4.0.0 1.41187E-05
29036 95 K/N 131 None 0.5831 None gnomAD-4.0.0 6.85198E-07
29037 96 E/G 132 None 0.5541 None gnomAD-4.0.0 1.59821E-06