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

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
7044 1 P/S 1 rs773899102 0.1923 None gnomAD-2.1.1 8.13E-06
7044 1 P/S 1 rs773899102 0.1923 None gnomAD-4.0.0 6.85243E-06
7045 2 S/T 2 rs921127943 0.4144 None gnomAD-3.1.2 6.57E-06
7045 2 S/T 2 rs921127943 0.4144 None gnomAD-4.0.0 5.13799E-06
7048 5 R/L 5 rs148072021 0.5331 None gnomAD-2.1.1 4.06E-06
7048 5 R/L 5 rs148072021 0.5331 None gnomAD-4.0.0 2.73973E-06
7048 5 R/Q 5 rs148072021 0.5331 None gnomAD-2.1.1 2.03E-05
7048 5 R/Q 5 rs148072021 0.5331 None gnomAD-3.1.2 1.32E-05
7048 5 R/Q 5 rs148072021 0.5331 None 1000 genomes 1.99681E-04
7048 5 R/Q 5 rs148072021 0.5331 None gnomAD-4.0.0 6.20282E-06
7049 6 R/S 7 rs2078919390 0.3304 None gnomAD-4.0.0 1.36959E-06
7050 7 L/P 8 None 0.2021 None gnomAD-4.0.0 6.84746E-07
7051 8 K/R 9 None 0.8617 None gnomAD-4.0.0 1.20032E-06
7052 9 N/S 11 rs1553913467 0.6272 None gnomAD-4.0.0 1.59375E-06
7053 10 T/P 13 rs727504741 0.4234 None gnomAD-2.1.1 7.19E-05
7053 10 T/P 13 rs727504741 0.4234 None gnomAD-3.1.2 1.31E-05
7053 10 T/P 13 rs727504741 0.4234 None gnomAD-4.0.0 4.03024E-05
7055 12 G/V 16 rs1189873191 0.2804 None gnomAD-2.1.1 4.05E-06
7055 12 G/V 16 rs1189873191 0.2804 None gnomAD-4.0.0 4.79138E-06
7055 12 G/W 16 rs375219301 0.2804 None gnomAD-2.1.1 2.02E-05
7055 12 G/W 16 rs375219301 0.2804 None gnomAD-3.1.2 3.29E-05
7055 12 G/W 16 rs375219301 0.2804 None 1000 genomes 1.99681E-04
7055 12 G/W 16 rs375219301 0.2804 None gnomAD-4.0.0 6.81871E-06
7056 13 V/L 18 rs1306079131 0.4924 None gnomAD-4.0.0 6.84436E-07
7056 13 V/M 18 rs1306079131 0.4924 None gnomAD-4.0.0 1.36887E-06
7057 14 L/F 23 None 0.3956 None gnomAD-4.0.0 1.20032E-06
7058 15 G/D 24 rs72648964 0.3615 None gnomAD-2.1.1 1.9129E-03
7058 15 G/D 24 rs72648964 0.3615 None gnomAD-3.1.2 3.3265E-03
7058 15 G/D 24 rs72648964 0.3615 None 1000 genomes 3.79393E-03
7058 15 G/D 24 rs72648964 0.3615 None gnomAD-4.0.0 1.22915E-03
7058 15 G/R 24 rs786205401 0.3615 None gnomAD-2.1.1 3.19E-05
7058 15 G/R 24 rs786205401 0.3615 None gnomAD-3.1.2 1.31E-05
7058 15 G/R 24 rs786205401 0.3615 None gnomAD-4.0.0 1.31447E-05
7058 15 G/S 24 None 0.3615 None gnomAD-4.0.0 1.20032E-06
7059 16 A/T 25 rs755126766 0.2969 None gnomAD-2.1.1 8.09E-06
7059 16 A/T 25 rs755126766 0.2969 None gnomAD-3.1.2 6.57E-06
7059 16 A/T 25 rs755126766 0.2969 None gnomAD-4.0.0 4.95901E-06
7059 16 A/V 25 rs2078912559 0.2969 None gnomAD-4.0.0 6.36904E-06
7060 17 S/F 26 rs751613786 0.6044 None gnomAD-2.1.1 4.04E-06
7060 17 S/F 26 rs751613786 0.6044 None gnomAD-3.1.2 6.57E-06
7060 17 S/F 26 rs751613786 0.6044 None gnomAD-4.0.0 6.57168E-06
7062 19 I/L 29 None 0.5395 None gnomAD-4.0.0 6.84382E-07
7062 19 I/T 29 None 0.5395 None gnomAD-4.0.0 1.36878E-06
7062 19 I/V 29 rs766548354 0.5395 None gnomAD-4.0.0 1.36876E-06
7066 23 K/R 34 rs553548392 0.3026 None gnomAD-2.1.1 2.39978E-04
7066 23 K/R 34 rs553548392 0.3026 None gnomAD-3.1.2 1.31432E-04
7066 23 K/R 34 rs553548392 0.3026 None 1000 genomes 1.99681E-04
7066 23 K/R 34 rs553548392 0.3026 None gnomAD-4.0.0 1.28142E-04
7068 25 A/T 38 None 0.3928 None gnomAD-4.0.0 1.59209E-06
7068 25 A/V 38 rs2078909515 0.3928 None gnomAD-4.0.0 1.59209E-06
7069 26 G/E 40 rs368334249 0.4772 None gnomAD-2.1.1 4.03E-06
7069 26 G/E 40 rs368334249 0.4772 None gnomAD-3.1.2 2.63E-05
7069 26 G/E 40 rs368334249 0.4772 None gnomAD-4.0.0 6.19761E-06
7069 26 G/R 40 None 0.4772 None gnomAD-4.0.0 2.40065E-06
7072 29 P/H 43 rs1370301283 0.7309 None gnomAD-2.1.1 4.03E-06
7073 30 I/M 44 None 0.1618 None gnomAD-4.0.0 1.59199E-06
7073 30 I/V 44 rs1321725183 0.1618 None gnomAD-2.1.1 4.03E-06
7074 31 S/L 45 rs1456194529 0.3916 None gnomAD-2.1.1 3.18E-05
7074 31 S/L 45 rs1456194529 0.3916 None gnomAD-3.1.2 6.57E-06
7074 31 S/L 45 rs1456194529 0.3916 None gnomAD-4.0.0 6.57125E-06
7076 33 A/V 47 rs374625641 0.1806 None gnomAD-2.1.1 8.06E-06
7076 33 A/V 47 rs374625641 0.1806 None gnomAD-4.0.0 2.2583E-05
7078 35 F/L 49 None 0.2124 None gnomAD-4.0.0 1.5919E-06
7079 36 H/R 50 rs781652689 0.1909 None gnomAD-4.0.0 6.00161E-06
7084 41 I/N 58 rs2078903172 0.1433 None gnomAD-3.1.2 6.57E-06
7084 41 I/N 58 rs2078903172 0.1433 None gnomAD-4.0.0 6.57099E-06
7085 42 V/F 59 rs1477979232 0.8201 None gnomAD-4.0.0 1.59192E-06
7085 42 V/G 59 rs762099144 0.8201 None gnomAD-2.1.1 4.03E-06
7085 42 V/G 59 rs762099144 0.8201 None gnomAD-4.0.0 3.1838E-06
7086 43 S/G 70 rs777135698 0.4656 None gnomAD-2.1.1 8.06E-06
7086 43 S/G 70 rs777135698 0.4656 None gnomAD-3.1.2 1.97E-05
7086 43 S/G 70 rs777135698 0.4656 None gnomAD-4.0.0 3.71864E-06
7086 43 S/I 70 None 0.4656 None gnomAD-4.0.0 1.20032E-06
7087 44 G/R 73 rs1170087818 0.3622 None gnomAD-2.1.1 8.06E-06
7087 44 G/R 73 rs1170087818 0.3622 None gnomAD-4.0.0 3.1838E-06
7088 45 A/T 102 None 0.7872 None gnomAD-4.0.0 3.18375E-06
7090 47 Y/C 121 rs1560711168 0.2386 None gnomAD-4.0.0 1.59189E-06
7090 47 Y/N 121 None 0.2386 None gnomAD-4.0.0 1.20032E-06
7092 49 T/I 123 None 0.2672 None gnomAD-4.0.0 1.59188E-06
7092 49 T/S 123 rs1376550364 0.2672 None gnomAD-2.1.1 4.03E-06
7092 49 T/S 123 rs1376550364 0.2672 None gnomAD-3.1.2 6.57E-06
7092 49 T/S 123 rs1376550364 0.2672 None gnomAD-4.0.0 2.02992E-06
7093 50 T/A 125 rs773883340 0.5920 None gnomAD-2.1.1 1.61E-05
7093 50 T/A 125 rs773883340 0.5920 None gnomAD-4.0.0 9.55122E-06
7094 51 F/S 127 None 0.3388 None gnomAD-4.0.0 2.40064E-06
7096 53 D/E 131 rs1482277729 0.9266 None gnomAD-2.1.1 4.03E-06
7096 53 D/E 131 rs1482277729 0.9266 None gnomAD-4.0.0 6.84317E-07
7097 54 N/K 134 rs773211607 0.4344 None gnomAD-2.1.1 4.03E-06
7097 54 N/K 134 rs773211607 0.4344 None gnomAD-3.1.2 6.57E-06
7097 54 N/K 134 rs773211607 0.4344 None gnomAD-4.0.0 2.47909E-06
7098 55 V/I 135 rs878978917 0.2408 None gnomAD-2.1.1 4.03E-06
7098 55 V/I 135 rs878978917 0.2408 None gnomAD-4.0.0 2.73726E-06
7099 56 C/Y 136 rs2078895939 0.0750 None gnomAD-4.0.0 3.42161E-06
7100 57 T/I 137 None 0.2613 None gnomAD-4.0.0 3.18371E-06
7101 58 L/S 138 None 0.0684 None gnomAD-4.0.0 1.59191E-06
7102 59 Q/H 139 None 0.3333 None gnomAD-4.0.0 1.59186E-06
7103 60 L/M 140 rs1235519093 0.1076 None gnomAD-2.1.1 4.03E-06
7103 60 L/M 140 rs1235519093 0.1076 None gnomAD-4.0.0 2.73728E-06
7103 60 L/V 140 None 0.1076 None gnomAD-4.0.0 6.84319E-07
7104 61 N/S 141 rs1684986089 0.3685 None gnomAD-3.1.2 6.57E-06
7104 61 N/S 141 rs1684986089 0.3685 None gnomAD-4.0.0 6.57091E-06
7105 62 S/Y 143 None 0.5573 None gnomAD-4.0.0 2.40064E-06
7109 66 S/L 148 rs368530326 0.4413 None gnomAD-2.1.1 4.03E-06
7109 66 S/L 148 rs368530326 0.4413 None gnomAD-4.0.0 3.49011E-05
7109 66 S/P 148 rs2078891499 0.4413 None gnomAD-3.1.2 6.57E-06
7109 66 S/P 148 rs2078891499 0.4413 None gnomAD-4.0.0 2.56292E-06
7111 68 M/L 151 rs1283834442 0.2934 None gnomAD-2.1.1 4.03E-06
7111 68 M/L 151 rs1283834442 0.2934 None gnomAD-4.0.0 6.84334E-07
7111 68 M/T 151 rs374408615 0.2934 None gnomAD-2.1.1 2.86E-05
7111 68 M/T 151 rs374408615 0.2934 None gnomAD-3.1.2 3.29E-05
7111 68 M/T 151 rs374408615 0.2934 None gnomAD-4.0.0 3.40884E-05
7111 68 M/V 151 None 0.2934 None gnomAD-4.0.0 6.84334E-07
7112 69 G/C 152 None 0.1517 None gnomAD-4.0.0 1.59198E-06
7112 69 G/V 152 rs781305504 0.1517 None gnomAD-2.1.1 4.03E-06
7112 69 G/V 152 rs781305504 0.1517 None gnomAD-3.1.2 6.57E-06
7112 69 G/V 152 rs781305504 0.1517 None gnomAD-4.0.0 6.57246E-06
7113 70 N/D 153 rs1309672541 0.4855 None gnomAD-2.1.1 4.03E-06
7113 70 N/D 153 rs1309672541 0.4855 None gnomAD-4.0.0 3.18407E-06
7114 71 Y/H 154 rs754909782 0.1086 None gnomAD-2.1.1 1.61E-05
7114 71 Y/H 154 rs754909782 0.1086 None gnomAD-4.0.0 3.42176E-06
7115 72 T/K 155 None 0.1335 None gnomAD-4.0.0 6.84364E-07
7115 72 T/S 155 None 0.1335 None gnomAD-4.0.0 1.59209E-06
7116 73 C/W 156 rs750661972 0.0734 None gnomAD-2.1.1 4.03E-06
7116 73 C/W 156 rs750661972 0.0734 None gnomAD-4.0.0 6.84374E-07
7117 74 V/L 157 None 0.2148 None gnomAD-4.0.0 7.52833E-06
7117 74 V/M 157 rs765385083 0.2148 None gnomAD-2.1.1 2.86E-05
7117 74 V/M 157 rs765385083 0.2148 None gnomAD-3.1.2 2.63E-05
7117 74 V/M 157 rs765385083 0.2148 None gnomAD-4.0.0 1.61161E-05
7118 75 A/T 158 rs2078883928 0.0893 None gnomAD-3.1.2 6.57E-06
7118 75 A/T 158 rs2078883928 0.0893 None gnomAD-4.0.0 6.57168E-06
7119 76 A/T 159 rs1254360704 0.2144 None gnomAD-2.1.1 4.03E-06
7119 76 A/T 159 rs1254360704 0.2144 None gnomAD-4.0.0 1.59262E-06
7119 76 A/V 159 None 0.2144 None gnomAD-4.0.0 1.59253E-06
7120 77 N/D 161 rs764627613 0.1734 None gnomAD-2.1.1 1.43E-05
7120 77 N/D 161 rs764627613 0.1734 None gnomAD-3.1.2 1.31E-05
7120 77 N/D 161 rs764627613 0.1734 None gnomAD-4.0.0 1.98365E-05
7120 77 N/T 161 rs192344560 0.1734 None gnomAD-2.1.1 1.43E-05
7120 77 N/T 161 rs192344560 0.1734 None gnomAD-3.1.2 6.57E-06
7120 77 N/T 161 rs192344560 0.1734 None 1000 genomes 1.99681E-04
7120 77 N/T 161 rs192344560 0.1734 None gnomAD-4.0.0 2.56345E-06
7121 78 V/D 162 rs1276789641 0.9413 None gnomAD-2.1.1 4.03E-06
7121 78 V/D 162 rs1276789641 0.9413 None gnomAD-3.1.2 6.57E-06
7121 78 V/D 162 rs1276789641 0.9413 None gnomAD-4.0.0 3.84604E-06
7121 78 V/I 162 rs893277923 0.9413 None gnomAD-4.0.0 2.73792E-06
7122 79 A/S 163 rs201394117 0.7096 None gnomAD-2.1.1 4.03E-06
7122 79 A/S 163 rs201394117 0.7096 None gnomAD-4.0.0 1.36925E-06
7122 79 A/T 163 rs201394117 0.7096 None gnomAD-2.1.1 4.72627E-04
7122 79 A/T 163 rs201394117 0.7096 None gnomAD-3.1.2 3.944E-04
7122 79 A/T 163 rs201394117 0.7096 None gnomAD-4.0.0 3.57742E-04
7123 80 G/R 164 rs377229283 0.3115 None gnomAD-2.1.1 4.03E-06
7123 80 G/R 164 rs377229283 0.3115 None gnomAD-3.1.2 1.31E-05
7123 80 G/R 164 rs377229283 0.3115 None gnomAD-4.0.0 1.11596E-05
7124 81 S/T 165 None 0.4070 None gnomAD-4.0.0 1.20032E-06
7125 82 D/N 166 None 0.1707 None gnomAD-4.0.0 1.59427E-06
7126 83 E/A 168 rs761736630 0.3611 None gnomAD-2.1.1 1.43E-05
7126 83 E/A 168 rs761736630 0.3611 None gnomAD-3.1.2 6.57E-06
7126 83 E/A 168 rs761736630 0.3611 None gnomAD-4.0.0 3.10105E-06
7126 83 E/D 168 rs786205315 0.3611 None gnomAD-4.0.0 6.84861E-07
7126 83 E/K 168 None 0.3611 None gnomAD-4.0.0 6.84791E-07
7127 84 C/R 169 None 0.0978 None gnomAD-4.0.0 1.44039E-05
7128 85 R/C 171 rs727505031 0.4170 None gnomAD-2.1.1 1.62E-05
7128 85 R/C 171 rs727505031 0.4170 None gnomAD-4.0.0 4.79626E-06
7128 85 R/G 171 rs727505031 0.4170 None gnomAD-4.0.0 6.85179E-07
7128 85 R/H 171 rs768531006 0.4170 None gnomAD-2.1.1 2.87E-05
7128 85 R/H 171 rs768531006 0.4170 None gnomAD-3.1.2 1.97E-05
7128 85 R/H 171 rs768531006 0.4170 None gnomAD-4.0.0 1.11711E-05
7128 85 R/L 171 None 0.4170 None gnomAD-4.0.0 6.8534E-07
7129 86 A/T 172 None 0.1269 None gnomAD-4.0.0 2.74159E-06
7129 86 A/V 172 rs2078875865 0.1269 None gnomAD-3.1.2 6.57E-06
7129 86 A/V 172 rs2078875865 0.1269 None gnomAD-4.0.0 2.48254E-06
7130 87 V/L 173 rs373905235 0.3660 None gnomAD-2.1.1 3.19E-05
7130 87 V/L 173 rs373905235 0.3660 None gnomAD-3.1.2 1.31E-05
7130 87 V/L 173 rs373905235 0.3660 None gnomAD-4.0.0 2.48313E-06
7130 87 V/M 173 None 0.3660 None gnomAD-4.0.0 6.85555E-07
7132 89 T/A 175 rs1450786655 0.4841 None gnomAD-3.1.2 6.57E-06
7132 89 T/A 175 rs1450786655 0.4841 None gnomAD-4.0.0 1.03036E-05
7133 90 V/A 177 rs2078874176 0.1316 None gnomAD-3.1.2 6.57E-06
7133 90 V/A 177 rs2078874176 0.1316 None gnomAD-4.0.0 1.8687E-06