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

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
7044 1 P/S 1 rs773899102 0.1914 None gnomAD-2.1.1 8.13E-06
7044 1 P/S 1 rs773899102 0.1914 None gnomAD-4.0.0 6.85243E-06
7045 2 S/T 2 rs921127943 0.4343 None gnomAD-3.1.2 6.57E-06
7045 2 S/T 2 rs921127943 0.4343 None gnomAD-4.0.0 5.13799E-06
7048 5 R/L 5 rs148072021 0.4547 None gnomAD-2.1.1 4.06E-06
7048 5 R/L 5 rs148072021 0.4547 None gnomAD-4.0.0 2.73973E-06
7048 5 R/Q 5 rs148072021 0.4547 None gnomAD-2.1.1 2.03E-05
7048 5 R/Q 5 rs148072021 0.4547 None gnomAD-3.1.2 1.32E-05
7048 5 R/Q 5 rs148072021 0.4547 None 1000 genomes 1.99681E-04
7048 5 R/Q 5 rs148072021 0.4547 None gnomAD-4.0.0 6.20282E-06
7049 6 R/S 7 rs2078919390 0.4138 None gnomAD-4.0.0 1.36959E-06
7050 7 L/P 8 None 0.1802 None gnomAD-4.0.0 6.84746E-07
7051 8 K/R 9 None 0.8696 None gnomAD-4.0.0 1.20032E-06
7052 9 N/S 11 rs1553913467 0.6248 None gnomAD-4.0.0 1.59375E-06
7053 10 T/P 13 rs727504741 0.3819 None gnomAD-2.1.1 7.19E-05
7053 10 T/P 13 rs727504741 0.3819 None gnomAD-3.1.2 1.31E-05
7053 10 T/P 13 rs727504741 0.3819 None gnomAD-4.0.0 4.03024E-05
7055 12 G/V 16 rs1189873191 0.2308 None gnomAD-2.1.1 4.05E-06
7055 12 G/V 16 rs1189873191 0.2308 None gnomAD-4.0.0 4.79138E-06
7055 12 G/W 16 rs375219301 0.2308 None gnomAD-2.1.1 2.02E-05
7055 12 G/W 16 rs375219301 0.2308 None gnomAD-3.1.2 3.29E-05
7055 12 G/W 16 rs375219301 0.2308 None 1000 genomes 1.99681E-04
7055 12 G/W 16 rs375219301 0.2308 None gnomAD-4.0.0 6.81871E-06
7056 13 V/L 18 rs1306079131 0.6820 None gnomAD-4.0.0 6.84436E-07
7056 13 V/M 18 rs1306079131 0.6820 None gnomAD-4.0.0 1.36887E-06
7057 14 L/F 23 None 0.7214 None gnomAD-4.0.0 1.20032E-06
7058 15 G/D 24 rs72648964 0.3300 None gnomAD-2.1.1 1.9129E-03
7058 15 G/D 24 rs72648964 0.3300 None gnomAD-3.1.2 3.3265E-03
7058 15 G/D 24 rs72648964 0.3300 None 1000 genomes 3.79393E-03
7058 15 G/D 24 rs72648964 0.3300 None gnomAD-4.0.0 1.22915E-03
7058 15 G/R 24 rs786205401 0.3300 None gnomAD-2.1.1 3.19E-05
7058 15 G/R 24 rs786205401 0.3300 None gnomAD-3.1.2 1.31E-05
7058 15 G/R 24 rs786205401 0.3300 None gnomAD-4.0.0 1.31447E-05
7058 15 G/S 24 None 0.3300 None gnomAD-4.0.0 1.20032E-06
7059 16 A/T 25 rs755126766 0.2697 None gnomAD-2.1.1 8.09E-06
7059 16 A/T 25 rs755126766 0.2697 None gnomAD-3.1.2 6.57E-06
7059 16 A/T 25 rs755126766 0.2697 None gnomAD-4.0.0 4.95901E-06
7059 16 A/V 25 rs2078912559 0.2697 None gnomAD-4.0.0 6.36904E-06
7060 17 S/F 26 rs751613786 0.5567 None gnomAD-2.1.1 4.04E-06
7060 17 S/F 26 rs751613786 0.5567 None gnomAD-3.1.2 6.57E-06
7060 17 S/F 26 rs751613786 0.5567 None gnomAD-4.0.0 6.57168E-06
7062 19 I/L 29 None 0.5277 None gnomAD-4.0.0 6.84382E-07
7062 19 I/T 29 None 0.5277 None gnomAD-4.0.0 1.36878E-06
7062 19 I/V 29 rs766548354 0.5277 None gnomAD-4.0.0 1.36876E-06
7066 23 K/R 34 rs553548392 0.2253 None gnomAD-2.1.1 2.39978E-04
7066 23 K/R 34 rs553548392 0.2253 None gnomAD-3.1.2 1.31432E-04
7066 23 K/R 34 rs553548392 0.2253 None 1000 genomes 1.99681E-04
7066 23 K/R 34 rs553548392 0.2253 None gnomAD-4.0.0 1.28142E-04
7068 25 A/T 38 None 0.3748 None gnomAD-4.0.0 1.59209E-06
7068 25 A/V 38 rs2078909515 0.3748 None gnomAD-4.0.0 1.59209E-06
7069 26 G/E 40 rs368334249 0.4507 None gnomAD-2.1.1 4.03E-06
7069 26 G/E 40 rs368334249 0.4507 None gnomAD-3.1.2 2.63E-05
7069 26 G/E 40 rs368334249 0.4507 None gnomAD-4.0.0 6.19761E-06
7069 26 G/R 40 None 0.4507 None gnomAD-4.0.0 2.40065E-06
7072 29 P/H 43 rs1370301283 0.8037 None gnomAD-2.1.1 4.03E-06
7073 30 I/M 44 None 0.1656 None gnomAD-4.0.0 1.59199E-06
7073 30 I/V 44 rs1321725183 0.1656 None gnomAD-2.1.1 4.03E-06
7074 31 S/L 45 rs1456194529 0.4375 None gnomAD-2.1.1 3.18E-05
7074 31 S/L 45 rs1456194529 0.4375 None gnomAD-3.1.2 6.57E-06
7074 31 S/L 45 rs1456194529 0.4375 None gnomAD-4.0.0 6.57125E-06
7076 33 A/V 47 rs374625641 0.2156 None gnomAD-2.1.1 8.06E-06
7076 33 A/V 47 rs374625641 0.2156 None gnomAD-4.0.0 2.2583E-05
7078 35 F/L 49 None 0.2056 None gnomAD-4.0.0 1.5919E-06
7079 36 H/R 50 rs781652689 0.1949 None gnomAD-4.0.0 6.00161E-06
7084 41 I/N 58 rs2078903172 0.1421 None gnomAD-3.1.2 6.57E-06
7084 41 I/N 58 rs2078903172 0.1421 None gnomAD-4.0.0 6.57099E-06
7085 42 V/F 59 rs1477979232 0.8034 None gnomAD-4.0.0 1.59192E-06
7085 42 V/G 59 rs762099144 0.8034 None gnomAD-2.1.1 4.03E-06
7085 42 V/G 59 rs762099144 0.8034 None gnomAD-4.0.0 3.1838E-06
7086 43 S/G 70 rs777135698 0.4544 None gnomAD-2.1.1 8.06E-06
7086 43 S/G 70 rs777135698 0.4544 None gnomAD-3.1.2 1.97E-05
7086 43 S/G 70 rs777135698 0.4544 None gnomAD-4.0.0 3.71864E-06
7086 43 S/I 70 None 0.4544 None gnomAD-4.0.0 1.20032E-06
7087 44 G/R 73 rs1170087818 0.3545 None gnomAD-2.1.1 8.06E-06
7087 44 G/R 73 rs1170087818 0.3545 None gnomAD-4.0.0 3.1838E-06
7088 45 A/T 102 None 0.7867 None gnomAD-4.0.0 3.18375E-06
7090 47 Y/C 121 rs1560711168 0.2423 None gnomAD-4.0.0 1.59189E-06
7090 47 Y/N 121 None 0.2423 None gnomAD-4.0.0 1.20032E-06
7092 49 T/I 123 None 0.3388 None gnomAD-4.0.0 1.59188E-06
7092 49 T/S 123 rs1376550364 0.3388 None gnomAD-2.1.1 4.03E-06
7092 49 T/S 123 rs1376550364 0.3388 None gnomAD-3.1.2 6.57E-06
7092 49 T/S 123 rs1376550364 0.3388 None gnomAD-4.0.0 2.02992E-06
7093 50 T/A 125 rs773883340 0.5171 None gnomAD-2.1.1 1.61E-05
7093 50 T/A 125 rs773883340 0.5171 None gnomAD-4.0.0 9.55122E-06
7094 51 F/S 127 None 0.3631 None gnomAD-4.0.0 2.40064E-06
7096 53 D/E 131 rs1482277729 0.9633 None gnomAD-2.1.1 4.03E-06
7096 53 D/E 131 rs1482277729 0.9633 None gnomAD-4.0.0 6.84317E-07
7097 54 N/K 134 rs773211607 0.4565 None gnomAD-2.1.1 4.03E-06
7097 54 N/K 134 rs773211607 0.4565 None gnomAD-3.1.2 6.57E-06
7097 54 N/K 134 rs773211607 0.4565 None gnomAD-4.0.0 2.47909E-06
7098 55 V/I 135 rs878978917 0.2039 None gnomAD-2.1.1 4.03E-06
7098 55 V/I 135 rs878978917 0.2039 None gnomAD-4.0.0 2.73726E-06
7099 56 C/Y 136 rs2078895939 0.0802 None gnomAD-4.0.0 3.42161E-06
7100 57 T/I 137 None 0.2298 None gnomAD-4.0.0 3.18371E-06
7101 58 L/S 138 None 0.0663 None gnomAD-4.0.0 1.59191E-06
7102 59 Q/H 139 None 0.3296 None gnomAD-4.0.0 1.59186E-06
7103 60 L/M 140 rs1235519093 0.0980 None gnomAD-2.1.1 4.03E-06
7103 60 L/M 140 rs1235519093 0.0980 None gnomAD-4.0.0 2.73728E-06
7103 60 L/V 140 None 0.0980 None gnomAD-4.0.0 6.84319E-07
7104 61 N/S 141 rs1684986089 0.3348 None gnomAD-3.1.2 6.57E-06
7104 61 N/S 141 rs1684986089 0.3348 None gnomAD-4.0.0 6.57091E-06
7105 62 S/Y 143 None 0.4915 None gnomAD-4.0.0 2.40064E-06
7109 66 S/L 148 rs368530326 0.4825 None gnomAD-2.1.1 4.03E-06
7109 66 S/L 148 rs368530326 0.4825 None gnomAD-4.0.0 3.49011E-05
7109 66 S/P 148 rs2078891499 0.4825 None gnomAD-3.1.2 6.57E-06
7109 66 S/P 148 rs2078891499 0.4825 None gnomAD-4.0.0 2.56292E-06
7111 68 M/L 151 rs1283834442 0.2981 None gnomAD-2.1.1 4.03E-06
7111 68 M/L 151 rs1283834442 0.2981 None gnomAD-4.0.0 6.84334E-07
7111 68 M/T 151 rs374408615 0.2981 None gnomAD-2.1.1 2.86E-05
7111 68 M/T 151 rs374408615 0.2981 None gnomAD-3.1.2 3.29E-05
7111 68 M/T 151 rs374408615 0.2981 None gnomAD-4.0.0 3.40884E-05
7111 68 M/V 151 None 0.2981 None gnomAD-4.0.0 6.84334E-07
7112 69 G/C 152 None 0.1705 None gnomAD-4.0.0 1.59198E-06
7112 69 G/V 152 rs781305504 0.1705 None gnomAD-2.1.1 4.03E-06
7112 69 G/V 152 rs781305504 0.1705 None gnomAD-3.1.2 6.57E-06
7112 69 G/V 152 rs781305504 0.1705 None gnomAD-4.0.0 6.57246E-06
7113 70 N/D 153 rs1309672541 0.4946 None gnomAD-2.1.1 4.03E-06
7113 70 N/D 153 rs1309672541 0.4946 None gnomAD-4.0.0 3.18407E-06
7114 71 Y/H 154 rs754909782 0.1083 None gnomAD-2.1.1 1.61E-05
7114 71 Y/H 154 rs754909782 0.1083 None gnomAD-4.0.0 3.42176E-06
7115 72 T/K 155 None 0.1277 None gnomAD-4.0.0 6.84364E-07
7115 72 T/S 155 None 0.1277 None gnomAD-4.0.0 1.59209E-06
7116 73 C/W 156 rs750661972 0.0654 None gnomAD-2.1.1 4.03E-06
7116 73 C/W 156 rs750661972 0.0654 None gnomAD-4.0.0 6.84374E-07
7117 74 V/L 157 None 0.2184 None gnomAD-4.0.0 7.52833E-06
7117 74 V/M 157 rs765385083 0.2184 None gnomAD-2.1.1 2.86E-05
7117 74 V/M 157 rs765385083 0.2184 None gnomAD-3.1.2 2.63E-05
7117 74 V/M 157 rs765385083 0.2184 None gnomAD-4.0.0 1.61161E-05
7118 75 A/T 158 rs2078883928 0.0999 None gnomAD-3.1.2 6.57E-06
7118 75 A/T 158 rs2078883928 0.0999 None gnomAD-4.0.0 6.57168E-06
7119 76 A/T 159 rs1254360704 0.2226 None gnomAD-2.1.1 4.03E-06
7119 76 A/T 159 rs1254360704 0.2226 None gnomAD-4.0.0 1.59262E-06
7119 76 A/V 159 None 0.2226 None gnomAD-4.0.0 1.59253E-06
7120 77 N/D 161 rs764627613 0.1852 None gnomAD-2.1.1 1.43E-05
7120 77 N/D 161 rs764627613 0.1852 None gnomAD-3.1.2 1.31E-05
7120 77 N/D 161 rs764627613 0.1852 None gnomAD-4.0.0 1.98365E-05
7120 77 N/T 161 rs192344560 0.1852 None gnomAD-2.1.1 1.43E-05
7120 77 N/T 161 rs192344560 0.1852 None gnomAD-3.1.2 6.57E-06
7120 77 N/T 161 rs192344560 0.1852 None 1000 genomes 1.99681E-04
7120 77 N/T 161 rs192344560 0.1852 None gnomAD-4.0.0 2.56345E-06
7121 78 V/D 162 rs1276789641 0.9465 None gnomAD-2.1.1 4.03E-06
7121 78 V/D 162 rs1276789641 0.9465 None gnomAD-3.1.2 6.57E-06
7121 78 V/D 162 rs1276789641 0.9465 None gnomAD-4.0.0 3.84604E-06
7121 78 V/I 162 rs893277923 0.9465 None gnomAD-4.0.0 2.73792E-06
7122 79 A/S 163 rs201394117 0.7131 None gnomAD-2.1.1 4.03E-06
7122 79 A/S 163 rs201394117 0.7131 None gnomAD-4.0.0 1.36925E-06
7122 79 A/T 163 rs201394117 0.7131 None gnomAD-2.1.1 4.72627E-04
7122 79 A/T 163 rs201394117 0.7131 None gnomAD-3.1.2 3.944E-04
7122 79 A/T 163 rs201394117 0.7131 None gnomAD-4.0.0 3.57742E-04
7123 80 G/R 164 rs377229283 0.3101 None gnomAD-2.1.1 4.03E-06
7123 80 G/R 164 rs377229283 0.3101 None gnomAD-3.1.2 1.31E-05
7123 80 G/R 164 rs377229283 0.3101 None gnomAD-4.0.0 1.11596E-05
7124 81 S/T 165 None 0.4869 None gnomAD-4.0.0 1.20032E-06
7125 82 D/N 166 None 0.2259 None gnomAD-4.0.0 1.59427E-06
7126 83 E/A 168 rs761736630 0.3591 None gnomAD-2.1.1 1.43E-05
7126 83 E/A 168 rs761736630 0.3591 None gnomAD-3.1.2 6.57E-06
7126 83 E/A 168 rs761736630 0.3591 None gnomAD-4.0.0 3.10105E-06
7126 83 E/D 168 rs786205315 0.3591 None gnomAD-4.0.0 6.84861E-07
7126 83 E/K 168 None 0.3591 None gnomAD-4.0.0 6.84791E-07
7127 84 C/R 169 None 0.0889 None gnomAD-4.0.0 1.44039E-05
7128 85 R/C 171 rs727505031 0.4061 None gnomAD-2.1.1 1.62E-05
7128 85 R/C 171 rs727505031 0.4061 None gnomAD-4.0.0 4.79626E-06
7128 85 R/G 171 rs727505031 0.4061 None gnomAD-4.0.0 6.85179E-07
7128 85 R/H 171 rs768531006 0.4061 None gnomAD-2.1.1 2.87E-05
7128 85 R/H 171 rs768531006 0.4061 None gnomAD-3.1.2 1.97E-05
7128 85 R/H 171 rs768531006 0.4061 None gnomAD-4.0.0 1.11711E-05
7128 85 R/L 171 None 0.4061 None gnomAD-4.0.0 6.8534E-07
7129 86 A/T 172 None 0.1303 None gnomAD-4.0.0 2.74159E-06
7129 86 A/V 172 rs2078875865 0.1303 None gnomAD-3.1.2 6.57E-06
7129 86 A/V 172 rs2078875865 0.1303 None gnomAD-4.0.0 2.48254E-06
7130 87 V/L 173 rs373905235 0.3430 None gnomAD-2.1.1 3.19E-05
7130 87 V/L 173 rs373905235 0.3430 None gnomAD-3.1.2 1.31E-05
7130 87 V/L 173 rs373905235 0.3430 None gnomAD-4.0.0 2.48313E-06
7130 87 V/M 173 None 0.3430 None gnomAD-4.0.0 6.85555E-07
7132 89 T/A 175 rs1450786655 0.4459 None gnomAD-3.1.2 6.57E-06
7132 89 T/A 175 rs1450786655 0.4459 None gnomAD-4.0.0 1.03036E-05
7133 90 V/A 177 rs2078874176 0.1936 None gnomAD-3.1.2 6.57E-06
7133 90 V/A 177 rs2078874176 0.1936 None gnomAD-4.0.0 1.8687E-06