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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
32017 1 A/V 1 rs1192866113 0.3089 None gnomAD-2.1.1 6.37E-05
32017 1 A/V 1 rs1192866113 0.3089 None gnomAD-3.1.2 1.31E-05
32017 1 A/V 1 rs1192866113 0.3089 None gnomAD-4.0.0 1.31489E-05
32018 2 D/E 2 rs773714477 0.7279 None gnomAD-3.1.2 6.57E-06
32018 2 D/E 2 rs773714477 0.7279 None gnomAD-4.0.0 4.96988E-06
32018 2 D/H 2 rs1275646531 0.7279 None gnomAD-2.1.1 3.18E-05
32018 2 D/H 2 rs1275646531 0.7279 None gnomAD-3.1.2 6.57E-06
32018 2 D/H 2 rs1275646531 0.7279 None gnomAD-4.0.0 6.57246E-06
32019 3 D/E 3 rs786205366 0.5080 None gnomAD-2.1.1 4.04E-06
32019 3 D/E 3 rs786205366 0.5080 None gnomAD-3.1.2 6.57E-06
32019 3 D/E 3 rs786205366 0.5080 None gnomAD-4.0.0 6.57212E-06
32022 6 K/Q 9 None 0.6155 None gnomAD-4.0.0 1.20032E-06
32023 7 T/I 11 None 0.4140 None gnomAD-4.0.0 6.84646E-07
32023 7 T/S 11 rs1030758412 0.4140 None gnomAD-4.0.0 2.05394E-06
32025 9 T/I 14 rs1259754105 0.4519 None gnomAD-3.1.2 6.57E-06
32025 9 T/I 14 rs1259754105 0.4519 None gnomAD-4.0.0 3.84548E-06
32026 10 I/L 16 None 0.1656 None gnomAD-4.0.0 1.59198E-06
32026 10 I/T 16 rs998031380 0.1656 None gnomAD-4.0.0 1.3687E-06
32027 11 R/G 18 rs770295329 0.7762 None gnomAD-2.1.1 4.03E-06
32027 11 R/G 18 rs770295329 0.7762 None gnomAD-3.1.2 6.57E-06
32027 11 R/G 18 rs770295329 0.7762 None gnomAD-4.0.0 2.02987E-06
32027 11 R/K 18 None 0.7762 None gnomAD-4.0.0 6.84346E-07
32027 11 R/M 18 rs748483895 0.7762 None gnomAD-2.1.1 8.05E-06
32027 11 R/M 18 rs748483895 0.7762 None gnomAD-4.0.0 1.36869E-06
32028 12 A/T 23 rs1196335652 0.4364 None gnomAD-2.1.1 7.15E-06
32028 12 A/T 23 rs1196335652 0.4364 None gnomAD-3.1.2 6.58E-06
32028 12 A/T 23 rs1196335652 0.4364 None gnomAD-4.0.0 2.47935E-06
32029 13 G/R 24 rs897097275 0.3869 None gnomAD-2.1.1 3.18E-05
32029 13 G/R 24 rs897097275 0.3869 None gnomAD-4.0.0 1.59182E-06
32030 14 A/D 25 rs781660295 0.2722 None gnomAD-3.1.2 6.57E-06
32030 14 A/D 25 rs781660295 0.2722 None gnomAD-4.0.0 6.57454E-06
32030 14 A/V 25 rs781660295 0.2722 None gnomAD-2.1.1 4.03E-06
32030 14 A/V 25 rs781660295 0.2722 None gnomAD-4.0.0 1.59192E-06
32031 15 S/P 26 None 0.3381 None gnomAD-4.0.0 1.20032E-06
32032 16 L/S 28 rs1267785229 0.1510 None gnomAD-2.1.1 4.02E-06
32032 16 L/S 28 rs1267785229 0.1510 None gnomAD-4.0.0 1.59166E-06
32033 17 R/C 29 rs755271215 0.6598 None gnomAD-2.1.1 2.01E-05
32033 17 R/C 29 rs755271215 0.6598 None gnomAD-3.1.2 1.32E-05
32033 17 R/C 29 rs755271215 0.6598 None gnomAD-4.0.0 2.04529E-05
32033 17 R/H 29 rs200648462 0.6598 None gnomAD-2.1.1 3.7154E-04
32033 17 R/H 29 rs200648462 0.6598 None gnomAD-3.1.2 8.68056E-04
32033 17 R/H 29 rs200648462 0.6598 None 1000 genomes 9.98403E-04
32033 17 R/H 29 rs200648462 0.6598 None gnomAD-4.0.0 1.84686E-04
32034 18 L/F 30 rs879175066 0.1342 None gnomAD-4.0.0 6.36618E-06
32034 18 L/S 30 rs778697335 0.1342 None gnomAD-4.0.0 1.59158E-06
32038 22 V/A 35 rs1274429401 0.1699 None gnomAD-2.1.1 1.21E-05
32038 22 V/A 35 rs1274429401 0.1699 None gnomAD-4.0.0 6.3662E-06
32038 22 V/I 35 rs753330318 0.1699 None gnomAD-2.1.1 1.21E-05
32038 22 V/I 35 rs753330318 0.1699 None gnomAD-3.1.2 1.31E-05
32038 22 V/I 35 rs753330318 0.1699 None gnomAD-4.0.0 1.85928E-06
32039 23 S/T 38 None 0.4706 None gnomAD-4.0.0 1.59154E-06
32042 26 P/L 42 rs879110168 0.3889 None gnomAD-4.0.0 2.73713E-06
32043 27 P/S 43 None 0.5841 None gnomAD-4.0.0 6.84263E-07
32044 28 P/L 44 None 0.1919 None gnomAD-4.0.0 2.40065E-06
32046 30 I/T 46 None 0.2081 None gnomAD-4.0.0 1.59152E-06
32046 30 I/V 46 None 0.2081 None gnomAD-4.0.0 1.59151E-06
32047 31 T/M 47 rs375640847 0.5310 None gnomAD-2.1.1 3.93E-05
32047 31 T/M 47 rs375640847 0.5310 None gnomAD-3.1.2 3.95E-05
32047 31 T/M 47 rs375640847 0.5310 None 1000 genomes 1.99681E-04
32047 31 T/M 47 rs375640847 0.5310 None gnomAD-4.0.0 3.40851E-05
32047 31 T/R 47 None 0.5310 None gnomAD-4.0.0 6.84258E-07
32048 32 W/C 48 None 0.2377 None gnomAD-4.0.0 1.59151E-06
32051 35 Q/R 51 rs767383259 1.0399 None gnomAD-2.1.1 4.02E-06
32053 37 I/M 55 rs906167122 0.2874 None gnomAD-3.1.2 6.58E-06
32053 37 I/M 55 rs906167122 0.2874 None gnomAD-4.0.0 4.95805E-06
32053 37 I/T 55 rs62621236 0.2874 None gnomAD-2.1.1 8.3463E-02
32053 37 I/T 55 rs62621236 0.2874 None gnomAD-3.1.2 8.3273E-02
32053 37 I/T 55 rs62621236 0.2874 None 1000 genomes 1.15815E-01
32053 37 I/T 55 rs62621236 0.2874 None gnomAD-4.0.0 5.45041E-02
32053 37 I/V 55 None 0.2874 None gnomAD-4.0.0 1.20032E-06
32055 39 L/F 58 None 0.1454 None gnomAD-4.0.0 1.59142E-06
32057 41 S/C 70 None 0.5425 None gnomAD-4.0.0 1.59141E-06
32057 41 S/G 70 rs766521706 0.5425 None gnomAD-2.1.1 4.02E-06
32057 41 S/N 70 None 0.5425 None gnomAD-4.0.0 6.36568E-06
32058 42 R/Q 115 rs374063064 0.2298 None gnomAD-2.1.1 8.92E-05
32058 42 R/Q 115 rs374063064 0.2298 None gnomAD-3.1.2 1.31539E-04
32058 42 R/Q 115 rs374063064 0.2298 None gnomAD-4.0.0 1.71673E-04
32058 42 R/W 115 rs201463708 0.2298 None gnomAD-2.1.1 3.21E-05
32058 42 R/W 115 rs201463708 0.2298 None gnomAD-3.1.2 7.24E-05
32058 42 R/W 115 rs201463708 0.2298 None gnomAD-4.0.0 2.23124E-05
32059 43 A/E 121 rs769741768 0.1596 None gnomAD-2.1.1 4.02E-06
32059 43 A/E 121 rs769741768 0.1596 None gnomAD-4.0.0 4.77427E-06
32060 44 I/S 122 None 0.6979 None gnomAD-4.0.0 1.20032E-06
32061 45 I/T 123 rs376202976 0.3224 None gnomAD-2.1.1 2.01E-05
32061 45 I/T 123 rs376202976 0.3224 None gnomAD-3.1.2 5.26E-05
32061 45 I/T 123 rs376202976 0.3224 None gnomAD-4.0.0 2.91274E-05
32061 45 I/V 123 rs1437623875 0.3224 None gnomAD-2.1.1 8.03E-06
32061 45 I/V 123 rs1437623875 0.3224 None gnomAD-4.0.0 3.42117E-06
32062 46 D/E 125 None 0.5979 None gnomAD-4.0.0 1.59142E-06
32062 46 D/G 125 None 0.5979 None gnomAD-4.0.0 1.59142E-06
32062 46 D/H 125 rs1695842509 0.5979 None gnomAD-3.1.2 6.57E-06
32062 46 D/H 125 rs1695842509 0.5979 None gnomAD-4.0.0 6.57454E-06
32063 47 T/A 127 None 0.3942 None gnomAD-4.0.0 1.59141E-06
32063 47 T/N 127 None 0.3942 None gnomAD-4.0.0 1.36847E-06
32064 48 T/N 130 None 0.2589 None gnomAD-4.0.0 1.20032E-06
32065 49 E/D 131 None 0.9144 None gnomAD-4.0.0 1.20032E-06
32065 49 E/K 131 rs1695839885 0.9144 None gnomAD-3.1.2 6.57E-06
32065 49 E/K 131 rs1695839885 0.9144 None gnomAD-4.0.0 6.57479E-06
32066 50 S/N 134 rs1438404917 0.3966 None gnomAD-2.1.1 4.02E-06
32066 50 S/N 134 rs1438404917 0.3966 None gnomAD-3.1.2 6.57E-06
32066 50 S/N 134 rs1438404917 0.3966 None gnomAD-4.0.0 3.09874E-06
32066 50 S/R 134 rs747323263 0.3966 None gnomAD-2.1.1 7.13E-06
32066 50 S/R 134 rs747323263 0.3966 None gnomAD-3.1.2 2.63E-05
32066 50 S/R 134 rs747323263 0.3966 None gnomAD-4.0.0 6.81722E-06
32067 51 Y/C 135 None 0.3461 None gnomAD-4.0.0 1.59143E-06
32067 51 Y/H 135 None 0.3461 None gnomAD-4.0.0 1.20033E-06
32068 52 S/A 136 None 0.1006 None gnomAD-4.0.0 3.18286E-06
32068 52 S/L 136 None 0.1006 None gnomAD-4.0.0 1.59141E-06
32069 53 L/F 137 rs1285541377 0.2653 None gnomAD-3.1.2 6.57E-06
32069 53 L/F 137 rs1285541377 0.2653 None gnomAD-4.0.0 1.8592E-06
32070 54 L/Q 138 rs748827491 0.0828 None gnomAD-2.1.1 4.02E-06
32070 54 L/Q 138 rs748827491 0.0828 None gnomAD-4.0.0 1.36847E-06
32070 54 L/R 138 None 0.0828 None gnomAD-4.0.0 6.84236E-07
32070 54 L/V 138 None 0.0828 None gnomAD-4.0.0 7.95715E-06
32071 55 I/R 139 rs755545981 0.2348 None gnomAD-2.1.1 8.03E-06
32071 55 I/R 139 rs755545981 0.2348 None gnomAD-3.1.2 1.97E-05
32071 55 I/R 139 rs755545981 0.2348 None gnomAD-4.0.0 8.67651E-06
32071 55 I/T 139 rs755545981 0.2348 None gnomAD-2.1.1 4.02E-06
32071 55 I/T 139 rs755545981 0.2348 None gnomAD-3.1.2 1.97E-05
32071 55 I/T 139 rs755545981 0.2348 None gnomAD-4.0.0 3.09853E-06
32072 56 V/G 140 None 0.1115 None gnomAD-4.0.0 1.20032E-06
32072 56 V/L 140 rs1375176606 0.1115 None gnomAD-2.1.1 4.02E-06
32072 56 V/L 140 rs1375176606 0.1115 None gnomAD-4.0.0 1.59139E-06
32073 57 D/E 141 rs1481940319 0.6428 None gnomAD-3.1.2 6.58E-06
32073 57 D/E 141 rs1481940319 0.6428 None gnomAD-4.0.0 1.5914E-06
32073 57 D/G 141 rs1312027934 0.6428 None gnomAD-2.1.1 4.02E-06
32073 57 D/G 141 rs1312027934 0.6428 None gnomAD-4.0.0 1.59138E-06
32074 58 K/R 143 None 0.8351 None gnomAD-4.0.0 1.20032E-06
32076 60 N/S 145 rs373289373 0.2794 None gnomAD-2.1.1 1.78E-05
32076 60 N/S 145 rs373289373 0.2794 None gnomAD-3.1.2 3.29E-05
32076 60 N/S 145 rs373289373 0.2794 None gnomAD-4.0.0 5.57749E-06
32077 61 R/Q 146 rs369835255 0.6229 None gnomAD-2.1.1 3.21E-05
32077 61 R/Q 146 rs369835255 0.6229 None gnomAD-3.1.2 5.26E-05
32077 61 R/Q 146 rs369835255 0.6229 None gnomAD-4.0.0 2.479E-05
32077 61 R/W 146 rs751316145 0.6229 None gnomAD-2.1.1 1.07E-05
32077 61 R/W 146 rs751316145 0.6229 None gnomAD-3.1.2 6.58E-06
32077 61 R/W 146 rs751316145 0.6229 None gnomAD-4.0.0 5.5781E-06
32078 62 Y/C 148 rs1157695554 0.6763 None gnomAD-2.1.1 4.02E-06
32078 62 Y/C 148 rs1157695554 0.6763 None gnomAD-4.0.0 1.59147E-05
32078 62 Y/S 148 rs1157695554 0.6763 None gnomAD-2.1.1 3.18E-05
32079 63 D/G 149 rs1559127150 0.1415 None gnomAD-2.1.1 4.02E-06
32079 63 D/G 149 rs1559127150 0.1415 None gnomAD-4.0.0 3.18298E-06
32079 63 D/H 149 rs200540781 0.1415 None gnomAD-2.1.1 8.21E-05
32079 63 D/H 149 rs200540781 0.1415 None gnomAD-3.1.2 7.23E-05
32079 63 D/H 149 rs200540781 0.1415 None gnomAD-4.0.0 5.88735E-05
32079 63 D/N 149 None 0.1415 None gnomAD-2.1.1 1.82021E-04
32079 63 D/N 149 None 0.1415 None gnomAD-3.1.2 2.03853E-04
32079 63 D/N 149 None 0.1415 None gnomAD-4.0.0 3.08644E-04
32079 63 D/Y 149 rs200540781 0.1415 None gnomAD-2.1.1 3.19E-05
32080 64 A/T 151 None 0.2353 None gnomAD-4.0.0 1.36849E-06
32080 64 A/V 151 None 0.2353 None gnomAD-4.0.0 1.20033E-06
32082 66 K/R 153 rs1388102991 0.7066 None gnomAD-4.0.0 4.77426E-06
32083 67 Y/H 154 rs1695809971 0.1434 None gnomAD-3.1.2 6.58E-06
32083 67 Y/H 154 rs1695809971 0.1434 None gnomAD-4.0.0 6.57791E-06
32084 68 T/A 155 None 0.2553 None gnomAD-4.0.0 1.36848E-06
32084 68 T/I 155 None 0.2553 None gnomAD-4.0.0 3.60097E-06
32085 69 I/L 156 rs761147994 0.0769 None gnomAD-2.1.1 1.07E-05
32085 69 I/L 156 rs761147994 0.0769 None gnomAD-3.1.2 6.57E-06
32085 69 I/L 156 rs761147994 0.0769 None gnomAD-4.0.0 1.05353E-05
32085 69 I/T 156 None 0.0769 None gnomAD-4.0.0 1.59147E-06
32086 70 E/K 157 rs775945524 0.3388 None gnomAD-2.1.1 8.05E-06
32086 70 E/K 157 rs775945524 0.3388 None gnomAD-4.0.0 3.18303E-06
32087 71 A/S 158 None 0.0909 None gnomAD-4.0.0 1.5915E-06
32087 71 A/T 158 rs1216183725 0.0909 None gnomAD-2.1.1 4.02E-06
32087 71 A/T 158 rs1216183725 0.0909 None gnomAD-4.0.0 3.18299E-06
32088 72 E/G 159 None 0.3685 None gnomAD-4.0.0 1.59153E-06
32088 72 E/K 159 rs1351862807 0.3685 None gnomAD-2.1.1 4.02E-06
32088 72 E/K 159 rs1351862807 0.3685 None gnomAD-4.0.0 1.59156E-06
32089 73 N/K 161 rs1695801999 0.1114 None gnomAD-3.1.2 6.58E-06
32089 73 N/K 161 rs1695801999 0.1114 None gnomAD-4.0.0 6.57618E-06
32090 74 Q/R 162 rs1205947497 0.6204 None gnomAD-2.1.1 3.19E-05
32090 74 Q/R 162 rs1205947497 0.6204 None gnomAD-3.1.2 1.31E-05
32090 74 Q/R 162 rs1205947497 0.6204 None gnomAD-4.0.0 1.31423E-05
32092 76 G/D 164 rs772540419 0.2278 None gnomAD-2.1.1 1.61E-05
32092 76 G/D 164 rs772540419 0.2278 None gnomAD-4.0.0 7.95793E-06
32092 76 G/R 164 None 0.2278 None gnomAD-4.0.0 3.18308E-06
32094 78 K/N 166 None 0.3221 None gnomAD-4.0.0 6.8426E-07
32096 80 A/P 169 None 0.2348 None gnomAD-4.0.0 6.84273E-07
32096 80 A/T 169 rs376039623 0.2348 None gnomAD-2.1.1 8.06E-05
32096 80 A/T 169 rs376039623 0.2348 None gnomAD-3.1.2 5.26E-05
32096 80 A/T 169 rs376039623 0.2348 None gnomAD-4.0.0 3.78047E-05
32097 81 T/I 171 rs1559126683 0.3875 None gnomAD-4.0.0 1.20032E-06
32100 84 V/A 174 rs794729541 0.1185 None gnomAD-2.1.1 4.03E-06
32100 84 V/A 174 rs794729541 0.1185 None gnomAD-3.1.2 1.31E-05
32100 84 V/A 174 rs794729541 0.1185 None gnomAD-4.0.0 1.0536E-05
32100 84 V/F 174 rs747553663 0.1185 None gnomAD-2.1.1 4.03E-06
32100 84 V/F 174 rs747553663 0.1185 None gnomAD-4.0.0 6.84323E-07
32100 84 V/L 174 None 0.1185 None gnomAD-4.0.0 6.84323E-07
32102 86 V/I 177 rs1297124100 0.1913 None gnomAD-2.1.1 4.04E-06
32102 86 V/I 177 rs1297124100 0.1913 None gnomAD-4.0.0 1.59218E-06