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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
7889 1 A/E 1 None 0.1209 None gnomAD-4.0.0 2.06755E-06
7889 1 A/S 1 rs777855676 0.1209 None gnomAD-2.1.1 4.15E-06
7889 1 A/S 1 rs777855676 0.1209 None gnomAD-3.1.2 6.58E-06
7889 1 A/S 1 rs777855676 0.1209 None gnomAD-4.0.0 3.11945E-06
7889 1 A/T 1 rs777855676 0.1209 None gnomAD-2.1.1 6.64E-05
7889 1 A/T 1 rs777855676 0.1209 None gnomAD-3.1.2 6.58E-06
7889 1 A/T 1 rs777855676 0.1209 None gnomAD-4.0.0 4.05528E-05
7889 1 A/V 1 None 0.1209 None gnomAD-4.0.0 6.89185E-07
7890 2 R/G 2 rs1356279706 0.7860 None gnomAD-2.1.1 4.14E-06
7890 2 R/I 2 rs370939248 0.7860 None gnomAD-2.1.1 1.24E-05
7890 2 R/I 2 rs370939248 0.7860 None gnomAD-3.1.2 1.31E-05
7890 2 R/I 2 rs370939248 0.7860 None gnomAD-4.0.0 1.55928E-05
7892 4 I/L 4 None 0.5478 None gnomAD-4.0.0 6.88564E-07
7892 4 I/R 4 rs201181445 0.5478 None gnomAD-2.1.1 1.63E-05
7892 4 I/R 4 rs201181445 0.5478 None gnomAD-3.1.2 1.97E-05
7892 4 I/R 4 rs201181445 0.5478 None gnomAD-4.0.0 9.94737E-06
7892 4 I/T 4 rs201181445 0.5478 None gnomAD-2.1.1 9.42E-05
7892 4 I/T 4 rs201181445 0.5478 None gnomAD-3.1.2 7.23E-05
7892 4 I/T 4 rs201181445 0.5478 None 1000 genomes 1.99681E-04
7892 4 I/T 4 rs201181445 0.5478 None gnomAD-4.0.0 7.45998E-05
7892 4 I/V 4 rs2078060561 0.5478 None gnomAD-4.0.0 2.06569E-06
7895 7 P/L 8 None 0.2519 None gnomAD-4.0.0 3.19471E-06
7895 7 P/S 8 None 0.2519 None gnomAD-4.0.0 6.85389E-07
7895 7 P/T 8 None 0.2519 None gnomAD-4.0.0 1.02808E-05
7896 8 E/K 9 rs786205400 0.6695 None gnomAD-2.1.1 2.03E-05
7896 8 E/K 9 rs786205400 0.6695 None gnomAD-3.1.2 1.31E-05
7896 8 E/K 9 rs786205400 0.6695 None gnomAD-4.0.0 9.92933E-06
7897 9 P/S 11 rs1276562007 0.6019 None gnomAD-4.0.0 1.59651E-06
7898 10 M/I 13 rs751897366 0.2123 None gnomAD-2.1.1 6.07E-05
7898 10 M/I 13 rs751897366 0.2123 None gnomAD-3.1.2 2.63E-05
7898 10 M/I 13 rs751897366 0.2123 None gnomAD-4.0.0 6.84579E-07
7900 12 V/A 16 None 0.1351 None gnomAD-4.0.0 2.40064E-06
7903 15 G/E 24 rs1362459833 0.3644 None gnomAD-2.1.1 4.04E-06
7903 15 G/E 24 rs1362459833 0.3644 None gnomAD-4.0.0 6.84411E-07
7903 15 G/V 24 None 0.3644 None gnomAD-4.0.0 6.84411E-07
7905 17 P/A 26 rs756887462 0.4221 None gnomAD-2.1.1 8.07E-06
7905 17 P/A 26 rs756887462 0.4221 None gnomAD-3.1.2 6.57E-06
7905 17 P/A 26 rs756887462 0.4221 None gnomAD-4.0.0 2.56346E-06
7905 17 P/L 26 None 0.4221 None gnomAD-4.0.0 1.59207E-06
7905 17 P/S 26 None 0.4221 None gnomAD-4.0.0 1.59211E-06
7906 18 F/L 28 rs753446112 0.1769 None gnomAD-2.1.1 8.07E-06
7906 18 F/L 28 rs753446112 0.1769 None gnomAD-4.0.0 1.91094E-05
7909 21 E/G 31 None 0.1777 None gnomAD-4.0.0 1.20032E-06
7909 21 E/Q 31 rs1161435142 0.1777 None gnomAD-2.1.1 4.03E-06
7909 21 E/Q 31 rs1161435142 0.1777 None gnomAD-3.1.2 6.57E-06
7909 21 E/Q 31 rs1161435142 0.1777 None gnomAD-4.0.0 2.23122E-05
7910 22 C/F 33 rs763596594 0.0749 None gnomAD-4.0.0 1.36858E-06
7910 22 C/G 33 None 0.0749 None gnomAD-4.0.0 6.84298E-07
7910 22 C/R 33 rs1577982173 0.0749 None gnomAD-4.0.0 4.10579E-06
7910 22 C/Y 33 rs763596594 0.0749 None gnomAD-2.1.1 4.03E-06
7910 22 C/Y 33 rs763596594 0.0749 None gnomAD-4.0.0 6.8429E-07
7912 24 V/L 35 rs797001857 0.1080 None gnomAD-2.1.1 3.18E-05
7912 24 V/L 35 rs797001857 0.1080 None gnomAD-3.1.2 1.31E-05
7912 24 V/L 35 rs797001857 0.1080 None gnomAD-4.0.0 5.12538E-06
7913 25 T/I 38 None 0.3640 None gnomAD-4.0.0 6.8427E-07
7913 25 T/S 38 None 0.3640 None gnomAD-4.0.0 6.8427E-07
7914 26 G/E 40 None 0.2493 None gnomAD-4.0.0 4.80129E-06
7916 28 P/R 42 rs764130233 0.5746 None gnomAD-2.1.1 1.61E-05
7916 28 P/R 42 rs764130233 0.5746 None gnomAD-3.1.2 6.57E-06
7916 28 P/R 42 rs764130233 0.5746 None gnomAD-4.0.0 2.29309E-05
7916 28 P/S 42 rs1264639309 0.5746 None gnomAD-4.0.0 1.59153E-06
7917 29 E/K 43 rs1288323003 0.8893 None gnomAD-2.1.1 4.02E-06
7917 29 E/K 43 rs1288323003 0.8893 None gnomAD-4.0.0 2.05276E-06
7918 30 L/F 44 rs767543848 0.2276 None gnomAD-2.1.1 1.79E-05
7918 30 L/F 44 rs767543848 0.2276 None gnomAD-3.1.2 1.31E-05
7918 30 L/F 44 rs767543848 0.2276 None gnomAD-4.0.0 3.84394E-06
7919 31 S/A 45 rs77183835 0.3681 None gnomAD-2.1.1 4.02E-06
7919 31 S/A 45 rs77183835 0.3681 None gnomAD-4.0.0 6.84249E-07
7919 31 S/P 45 None 0.3681 None gnomAD-4.0.0 1.3685E-06
7920 32 A/D 46 None 0.2955 None gnomAD-4.0.0 1.36851E-06
7920 32 A/T 46 rs774246101 0.2955 None gnomAD-2.1.1 4.02E-06
7920 32 A/T 46 rs774246101 0.2955 None gnomAD-4.0.0 1.59147E-06
7920 32 A/V 46 None 0.2955 None gnomAD-4.0.0 6.84257E-07
7922 34 W/C 48 rs1342595109 0.1095 None gnomAD-2.1.1 4.02E-06
7922 34 W/C 48 rs1342595109 0.1095 None gnomAD-4.0.0 2.05274E-06
7922 34 W/R 48 rs1049106432 0.1095 None gnomAD-2.1.1 1.43E-05
7922 34 W/R 48 rs1049106432 0.1095 None gnomAD-3.1.2 1.31E-05
7922 34 W/R 48 rs1049106432 0.1095 None gnomAD-4.0.0 6.84249E-07
7924 36 K/N 50 rs373894127 0.1386 None gnomAD-2.1.1 2.41E-05
7924 36 K/N 50 rs373894127 0.1386 None gnomAD-3.1.2 1.97E-05
7924 36 K/N 50 rs373894127 0.1386 None gnomAD-4.0.0 1.42537E-05
7924 36 K/Q 50 rs770650362 0.1386 None gnomAD-2.1.1 7.14E-06
7924 36 K/Q 50 rs770650362 0.1386 None gnomAD-3.1.2 1.97E-05
7924 36 K/Q 50 rs770650362 0.1386 None gnomAD-4.0.0 6.81684E-06
7924 36 K/R 50 rs749465424 0.1386 None gnomAD-2.1.1 8.04E-06
7924 36 K/R 50 rs749465424 0.1386 None gnomAD-4.0.0 3.18287E-06
7926 38 G/E 52 None 0.5143 None gnomAD-4.0.0 3.18284E-06
7926 38 G/R 52 rs1462977201 0.5143 None gnomAD-2.1.1 4.02E-06
7926 38 G/R 52 rs1462977201 0.5143 None gnomAD-4.0.0 6.84239E-07
7926 38 G/V 52 None 0.5143 None gnomAD-4.0.0 1.59142E-06
7927 39 R/K 55 None 0.7989 None gnomAD-4.0.0 1.20032E-06
7928 40 E/Q 56 rs770121355 0.3449 None gnomAD-2.1.1 1.21E-05
7928 40 E/Q 56 rs770121355 0.3449 None gnomAD-4.0.0 4.77435E-06
7930 42 S/F 59 None 0.6794 None gnomAD-4.0.0 1.59141E-06
7930 42 S/P 59 rs2078046090 0.6794 None gnomAD-3.1.2 6.57E-06
7930 42 S/P 59 rs2078046090 0.6794 None gnomAD-4.0.0 6.5735E-06
7932 44 D/E 73 rs1271514661 0.3054 None gnomAD-3.1.2 6.57E-06
7932 44 D/E 73 rs1271514661 0.3054 None gnomAD-4.0.0 6.57428E-06
7932 44 D/G 73 None 0.3054 None gnomAD-4.0.0 1.20032E-06
7933 45 S/N 111 rs748211413 0.7927 None gnomAD-2.1.1 3.62E-05
7933 45 S/N 111 rs748211413 0.7927 None gnomAD-4.0.0 5.4739E-06
7933 45 S/R 111 rs971822039 0.7927 None gnomAD-2.1.1 8.04E-06
7933 45 S/R 111 rs971822039 0.7927 None gnomAD-4.0.0 1.20032E-06
7935 47 H/Y 121 None 0.2747 None gnomAD-4.0.0 1.20032E-06
7936 48 H/P 122 None 0.4642 None gnomAD-4.0.0 1.20032E-06
7937 49 I/M 123 None 0.2574 None gnomAD-4.0.0 1.59136E-06
7937 49 I/V 123 None 0.2574 None gnomAD-4.0.0 1.20032E-06
7939 51 F/L 127 rs866647945 0.3508 None gnomAD-4.0.0 6.84224E-07
7940 52 I/N 130 None 0.6459 None gnomAD-4.0.0 1.20032E-06
7940 52 I/V 130 None 0.6459 None gnomAD-4.0.0 2.40064E-06
7941 53 N/D 131 rs2078042798 0.8778 None gnomAD-3.1.2 6.57E-06
7941 53 N/D 131 rs2078042798 0.8778 None gnomAD-4.0.0 3.045E-06
7941 53 N/K 131 rs370320967 0.8778 None gnomAD-2.1.1 4.02E-06
7941 53 N/K 131 rs370320967 0.8778 None gnomAD-3.1.2 6.58E-06
7941 53 N/K 131 rs370320967 0.8778 None gnomAD-4.0.0 3.04516E-06
7941 53 N/S 131 None 0.8778 None gnomAD-4.0.0 3.42111E-06
7942 54 K/E 134 rs780339774 0.2833 None gnomAD-2.1.1 4.02E-05
7942 54 K/E 134 rs780339774 0.2833 None gnomAD-4.0.0 2.18951E-05
7944 56 A/P 136 None 0.0742 None gnomAD-4.0.0 1.59137E-06
7945 57 S/C 137 rs867642789 0.1366 None gnomAD-3.1.2 6.58E-06
7945 57 S/C 137 rs867642789 0.1366 None gnomAD-4.0.0 2.30631E-05
7949 61 P/H 141 None 0.4516 None gnomAD-4.0.0 1.59141E-06
7949 61 P/S 141 None 0.4516 None gnomAD-4.0.0 1.20032E-06
7950 62 C/S 143 None 0.4335 None gnomAD-4.0.0 1.20032E-06
7951 63 A/T 144 None 0.1095 None gnomAD-4.0.0 2.05267E-06
7952 64 E/K 145 rs752227139 0.4995 None gnomAD-2.1.1 1.79E-05
7952 64 E/K 145 rs752227139 0.4995 None gnomAD-3.1.2 4.6E-05
7952 64 E/K 145 rs752227139 0.4995 None gnomAD-4.0.0 4.15235E-05
7953 65 M/I 146 rs1218890532 0.4014 None gnomAD-2.1.1 4.02E-06
7953 65 M/I 146 rs1218890532 0.4014 None gnomAD-4.0.0 1.36846E-06
7955 67 D/A 149 rs767163830 0.1444 None gnomAD-2.1.1 4.02E-06
7955 67 D/A 149 rs767163830 0.1444 None gnomAD-4.0.0 1.59138E-06
7955 67 D/E 149 rs759495262 0.1444 None gnomAD-2.1.1 4.02E-06
7955 67 D/E 149 rs759495262 0.1444 None gnomAD-4.0.0 2.73696E-06
7956 68 K/I 151 rs1405929725 0.6046 None gnomAD-3.1.2 6.57E-06
7956 68 K/I 151 rs1405929725 0.6046 None gnomAD-4.0.0 6.57393E-06
7957 69 G/E 152 None 0.1692 None gnomAD-4.0.0 1.59145E-06
7959 71 Y/C 154 rs1442939015 0.1298 None gnomAD-2.1.1 4.02E-06
7959 71 Y/C 154 rs1442939015 0.1298 None gnomAD-4.0.0 3.183E-06
7959 71 Y/D 154 None 0.1298 None gnomAD-4.0.0 6.84253E-07
7959 71 Y/H 154 rs1056651296 0.1298 None gnomAD-4.0.0 6.84253E-07
7960 72 S/N 155 rs369302142 0.2034 None gnomAD-2.1.1 3.62E-05
7960 72 S/N 155 rs369302142 0.2034 None gnomAD-3.1.2 1.31E-05
7960 72 S/N 155 rs369302142 0.2034 None gnomAD-4.0.0 1.7356E-05
7961 73 F/L 156 None 0.0836 None gnomAD-4.0.0 6.84365E-06
7963 75 V/M 158 rs1444280524 0.0856 None gnomAD-2.1.1 4.03E-06
7963 75 V/M 158 rs1444280524 0.0856 None gnomAD-4.0.0 1.36895E-06
7965 77 N/D 161 None 0.1671 None gnomAD-4.0.0 3.42398E-06
7965 77 N/K 161 rs1363515138 0.1671 None gnomAD-3.1.2 1.31E-05
7965 77 N/K 161 rs1363515138 0.1671 None gnomAD-4.0.0 1.3146E-05
7966 78 S/G 162 rs766127559 0.6418 None gnomAD-2.1.1 4.03E-06
7966 78 S/G 162 rs766127559 0.6418 None gnomAD-4.0.0 6.37885E-06
7966 78 S/R 162 rs773116614 0.6418 None gnomAD-2.1.1 1.59307E-04
7966 78 S/R 162 rs773116614 0.6418 None gnomAD-3.1.2 3.29E-05
7966 78 S/R 162 rs773116614 0.6418 None gnomAD-4.0.0 3.72202E-06
7966 78 S/T 162 rs762651037 0.6418 None gnomAD-2.1.1 1.21E-05
7966 78 S/T 162 rs762651037 0.6418 None gnomAD-3.1.2 6.57E-06
7966 78 S/T 162 rs762651037 0.6418 None gnomAD-4.0.0 4.96211E-06
7968 80 G/V 164 None 0.2404 None gnomAD-4.0.0 1.37035E-06
7969 81 K/N 165 rs1454384580 0.4577 None gnomAD-2.1.1 4.03E-06
7971 83 N/K 168 None 0.6428 None gnomAD-4.0.0 1.3709E-06
7972 84 C/Y 169 rs376354376 0.1792 None gnomAD-2.1.1 4.04E-06
7972 84 C/Y 169 rs376354376 0.1792 None gnomAD-3.1.2 6.57E-06
7972 84 C/Y 169 rs376354376 0.1792 None 1000 genomes 1.99681E-04
7972 84 C/Y 169 rs376354376 0.1792 None gnomAD-4.0.0 3.72528E-06
7973 85 T/A 171 None 0.4547 None gnomAD-4.0.0 1.59876E-06
7973 85 T/I 171 rs768738299 0.4547 None gnomAD-2.1.1 4.04E-06
7973 85 T/I 171 rs768738299 0.4547 None gnomAD-4.0.0 1.59921E-06
7975 87 S/C 173 rs2078029519 0.3225 None gnomAD-4.0.0 2.06075E-06
7975 87 S/F 173 None 0.3225 None gnomAD-4.0.0 6.86917E-07
7976 88 V/I 174 rs200395305 0.1103 None gnomAD-2.1.1 4.69E-05
7976 88 V/I 174 rs200395305 0.1103 None gnomAD-3.1.2 1.05164E-04
7976 88 V/I 174 rs200395305 0.1103 None gnomAD-4.0.0 6.97117E-05
7977 89 H/Q 175 rs1340162231 0.5804 None gnomAD-4.0.0 1.37764E-06
7977 89 H/R 175 rs1357770681 0.5804 None gnomAD-4.0.0 2.06622E-06
7977 89 H/Y 175 None 0.5804 None gnomAD-4.0.0 1.61498E-06