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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
25111 1 I/T 1 rs879132850 0.1785 None gnomAD-3.1.2 6.58E-06
25111 1 I/T 1 rs879132850 0.1785 None gnomAD-4.0.0 2.56315E-06
25112 2 S/T 2 rs984744354 0.2678 None gnomAD-2.1.1 4.02E-06
25112 2 S/T 2 rs984744354 0.2678 None gnomAD-4.0.0 1.59172E-06
25113 3 M/T 3 rs1707917158 0.2426 None gnomAD-3.1.2 6.58E-06
25113 3 M/T 3 rs1707917158 0.2426 None gnomAD-4.0.0 2.03007E-06
25114 4 D/H 4 rs373701934 0.3025 None gnomAD-3.1.2 6.58E-06
25114 4 D/H 4 rs373701934 0.3025 None gnomAD-4.0.0 2.03007E-06
25116 6 K/Q 6 rs900765170 0.2700 None gnomAD-3.1.2 6.57E-06
25116 6 K/Q 6 rs900765170 0.2700 None gnomAD-4.0.0 2.03E-06
25117 7 Y/C 7 rs1559394408 0.1756 None gnomAD-4.0.0 1.20032E-06
25118 8 K/E 8 rs1160362939 0.7279 None gnomAD-2.1.1 4.02E-06
25118 8 K/E 8 rs1160362939 0.7279 None gnomAD-4.0.0 1.5917E-06
25118 8 K/N 8 rs780754941 0.7279 None gnomAD-2.1.1 2.41E-05
25118 8 K/N 8 rs780754941 0.7279 None gnomAD-4.0.0 1.36859E-05
25121 11 I/T 13 rs751021006 0.2123 None gnomAD-2.1.1 4.03E-06
25121 11 I/T 13 rs751021006 0.2123 None gnomAD-4.0.0 1.59168E-06
25121 11 I/V 13 rs199508062 0.2123 None gnomAD-2.1.1 1.14367E-04
25121 11 I/V 13 rs199508062 0.2123 None gnomAD-3.1.2 3.28774E-04
25121 11 I/V 13 rs199508062 0.2123 None 1000 genomes 3.99361E-04
25121 11 I/V 13 rs199508062 0.2123 None gnomAD-4.0.0 6.01155E-05
25122 12 V/M 14 rs376821762 0.4520 None gnomAD-2.1.1 5.64E-05
25122 12 V/M 14 rs376821762 0.4520 None gnomAD-3.1.2 1.32E-05
25122 12 V/M 14 rs376821762 0.4520 None gnomAD-4.0.0 8.61509E-05
25123 13 V/A 16 rs1456861699 0.1568 None gnomAD-4.0.0 2.73714E-06
25124 14 H/P 18 None 0.6417 None gnomAD-4.0.0 2.40064E-06
25125 15 A/S 23 rs764929320 0.5100 None gnomAD-2.1.1 4.02E-06
25125 15 A/S 23 rs764929320 0.5100 None gnomAD-4.0.0 1.5917E-06
25126 16 G/D 24 rs776574546 0.3705 None gnomAD-2.1.1 4.02E-06
25126 16 G/D 24 rs776574546 0.3705 None gnomAD-4.0.0 1.36859E-06
25126 16 G/S 24 rs761767394 0.3705 None gnomAD-2.1.1 1.21E-05
25126 16 G/S 24 rs761767394 0.3705 None gnomAD-4.0.0 4.77514E-06
25127 17 E/G 25 rs768944134 0.3295 None gnomAD-2.1.1 4.02E-06
25127 17 E/G 25 rs768944134 0.3295 None gnomAD-3.1.2 6.58E-06
25127 17 E/G 25 rs768944134 0.3295 None gnomAD-4.0.0 2.0301E-06
25128 18 S/T 26 None 0.4245 None gnomAD-4.0.0 1.20032E-06
25129 19 F/C 28 None 0.2280 None gnomAD-4.0.0 6.84285E-07
25129 19 F/L 28 rs373411870 0.2280 None gnomAD-2.1.1 4.02E-06
25129 19 F/L 28 rs373411870 0.2280 None gnomAD-3.1.2 1.32E-05
25129 19 F/L 28 rs373411870 0.2280 None gnomAD-4.0.0 1.59168E-06
25129 19 F/Y 28 None 0.2280 None gnomAD-4.0.0 6.84285E-07
25131 21 V/F 30 None 0.1234 None gnomAD-4.0.0 1.36857E-06
25133 23 A/S 33 rs775396902 0.1390 None gnomAD-2.1.1 4.02E-06
25133 23 A/S 33 rs775396902 0.1390 None gnomAD-4.0.0 1.59163E-06
25133 23 A/V 33 rs772239178 0.1390 None gnomAD-2.1.1 4.02E-06
25133 23 A/V 33 rs772239178 0.1390 None gnomAD-4.0.0 1.36856E-06
25134 24 D/A 34 rs746343685 0.3952 None gnomAD-3.1.2 6.58E-06
25134 24 D/A 34 rs746343685 0.3952 None gnomAD-4.0.0 6.5754E-06
25134 24 D/G 34 rs746343685 0.3952 None gnomAD-2.1.1 4.02E-06
25134 24 D/G 34 rs746343685 0.3952 None gnomAD-3.1.2 6.58E-06
25134 24 D/G 34 rs746343685 0.3952 None gnomAD-4.0.0 2.56289E-06
25134 24 D/H 34 None 0.3952 None gnomAD-4.0.0 1.20032E-06
25136 26 Y/N 38 None 0.4132 None gnomAD-4.0.0 1.20032E-06
25137 27 G/A 40 rs369755096 0.2253 None gnomAD-2.1.1 2.14E-05
25137 27 G/A 40 rs369755096 0.2253 None gnomAD-3.1.2 7.89E-05
25137 27 G/A 40 rs369755096 0.2253 None gnomAD-4.0.0 1.11565E-05
25138 28 K/Q 41 rs1392761642 0.5558 None gnomAD-2.1.1 4.02E-06
25138 28 K/Q 41 rs1392761642 0.5558 None gnomAD-4.0.0 2.40064E-06
25138 28 K/R 41 rs376597438 0.5558 None gnomAD-2.1.1 8.04E-06
25138 28 K/R 41 rs376597438 0.5558 None gnomAD-3.1.2 1.97E-05
25138 28 K/R 41 rs376597438 0.5558 None gnomAD-4.0.0 2.54095E-05
25139 29 P/L 42 rs771430495 0.4801 None gnomAD-2.1.1 4.02E-06
25139 29 P/L 42 rs771430495 0.4801 None gnomAD-4.0.0 2.73714E-06
25139 29 P/S 42 rs1462179644 0.4801 None gnomAD-2.1.1 4.02E-06
25139 29 P/S 42 rs1462179644 0.4801 None gnomAD-4.0.0 1.59164E-06
25141 31 P/T 44 None 0.1784 None gnomAD-4.0.0 1.20032E-06
25142 32 T/A 45 rs1707881545 0.6415 None gnomAD-4.0.0 1.59167E-06
25143 33 I/T 46 rs988443056 0.2945 None gnomAD-4.0.0 1.59168E-06
25144 34 Q/L 47 rs1168512437 0.4102 None gnomAD-2.1.1 4.02E-06
25144 34 Q/L 47 rs1168512437 0.4102 None gnomAD-4.0.0 1.59167E-06
25146 36 I/K 49 None 0.2245 None gnomAD-4.0.0 1.20032E-06
25146 36 I/M 49 rs957042580 0.2245 None gnomAD-4.0.0 6.84293E-07
25148 38 G/C 51 None 0.4439 None gnomAD-4.0.0 6.84303E-07
25148 38 G/D 51 rs1206394112 0.4439 None gnomAD-3.1.2 1.32E-05
25148 38 G/D 51 rs1206394112 0.4439 None gnomAD-4.0.0 2.4792E-06
25148 38 G/R 51 None 0.4439 None gnomAD-4.0.0 7.52734E-06
25148 38 G/S 51 rs778131439 0.4439 None gnomAD-2.1.1 4.02E-06
25148 38 G/S 51 rs778131439 0.4439 None gnomAD-4.0.0 5.47443E-06
25149 39 D/V 52 None 1.1896 None gnomAD-4.0.0 1.59177E-06
25150 40 Q/E 55 rs1421628949 0.7528 None gnomAD-2.1.1 4.02E-06
25150 40 Q/E 55 rs1421628949 0.7528 None gnomAD-3.1.2 6.58E-06
25150 40 Q/E 55 rs1421628949 0.7528 None gnomAD-4.0.0 6.4084E-06
25150 40 Q/P 55 None 0.7528 None gnomAD-4.0.0 1.20032E-06
25150 40 Q/R 55 rs1264505015 0.7528 None gnomAD-3.1.2 6.57E-06
25150 40 Q/R 55 rs1264505015 0.7528 None gnomAD-4.0.0 6.57307E-06
25152 42 L/F 58 rs1467946546 0.2164 None gnomAD-2.1.1 4.02E-06
25152 42 L/V 58 rs1467946546 0.2164 None gnomAD-3.1.2 6.58E-06
25152 42 L/V 58 rs1467946546 0.2164 None gnomAD-4.0.0 1.85948E-06
25153 43 S/L 69 rs368058280 0.6249 None gnomAD-2.1.1 9.28E-05
25153 43 S/L 69 rs368058280 0.6249 None gnomAD-3.1.2 6.58E-05
25153 43 S/L 69 rs368058280 0.6249 None gnomAD-4.0.0 9.73036E-05
25154 44 N/D 70 None 0.5877 None gnomAD-4.0.0 1.59197E-06
25155 45 T/I 73 None 0.3967 None gnomAD-4.0.0 1.20032E-06
25157 47 R/L 115 None 0.3392 None gnomAD-4.0.0 6.84339E-07
25157 47 R/Q 115 rs779410073 0.3392 None gnomAD-2.1.1 2.41E-05
25157 47 R/Q 115 rs779410073 0.3392 None gnomAD-3.1.2 6.58E-06
25157 47 R/Q 115 rs779410073 0.3392 None gnomAD-4.0.0 8.67763E-06
25158 48 L/S 121 None 0.1724 None gnomAD-4.0.0 3.60097E-06
25159 49 E/G 122 None 0.4588 None gnomAD-4.0.0 1.20032E-06
25160 50 I/K 123 None 0.2119 None gnomAD-4.0.0 2.40064E-06
25161 51 K/N 125 rs1707854232 0.5384 None gnomAD-4.0.0 4.10597E-06
25162 52 S/G 127 rs889930941 0.4421 None gnomAD-2.1.1 4.02E-06
25162 52 S/N 127 None 0.4421 None gnomAD-4.0.0 6.84335E-07
25162 52 S/T 127 rs750324994 0.4421 None gnomAD-2.1.1 1.21E-05
25162 52 S/T 127 rs750324994 0.4421 None gnomAD-3.1.2 2.63E-05
25162 52 S/T 127 rs750324994 0.4421 None gnomAD-4.0.0 6.81768E-06
25163 53 T/A 130 rs879020274 0.5214 None gnomAD-2.1.1 1.43E-05
25163 53 T/A 130 rs879020274 0.5214 None gnomAD-3.1.2 3.94E-05
25163 53 T/A 130 rs879020274 0.5214 None gnomAD-4.0.0 2.78914E-05
25163 53 T/I 130 rs765157072 0.5214 None gnomAD-2.1.1 4.02E-06
25163 53 T/I 130 rs765157072 0.5214 None gnomAD-3.1.2 6.58E-06
25163 53 T/I 130 rs765157072 0.5214 None gnomAD-4.0.0 2.47937E-06
25163 53 T/N 130 None 0.5214 None gnomAD-4.0.0 6.84335E-07
25164 54 D/N 131 rs192468365 0.6936 None gnomAD-2.1.1 6.07E-05
25164 54 D/N 131 rs192468365 0.6936 None gnomAD-3.1.2 1.57824E-04
25164 54 D/N 131 rs192468365 0.6936 None 1000 genomes 5.99042E-04
25164 54 D/N 131 rs192468365 0.6936 None gnomAD-4.0.0 4.02865E-05
25165 55 F/L 134 rs879163890 0.5731 None gnomAD-2.1.1 1.07E-05
25165 55 F/L 134 rs879163890 0.5731 None gnomAD-3.1.2 1.32E-05
25165 55 F/L 134 rs879163890 0.5731 None gnomAD-4.0.0 3.84489E-06
25166 56 A/V 135 rs753641145 0.2168 None gnomAD-2.1.1 4.02E-06
25166 56 A/V 135 rs753641145 0.2168 None gnomAD-4.0.0 8.21211E-06
25167 57 T/I 136 rs1396100350 0.1403 None gnomAD-2.1.1 8.05E-06
25167 57 T/I 136 rs1396100350 0.1403 None gnomAD-4.0.0 2.05299E-06
25168 58 S/R 137 rs938587020 0.1823 None gnomAD-2.1.1 9.29E-05
25168 58 S/R 137 rs938587020 0.1823 None gnomAD-3.1.2 2.95932E-04
25168 58 S/R 137 rs938587020 0.1823 None 1000 genomes 5.99042E-04
25168 58 S/R 137 rs938587020 0.1823 None gnomAD-4.0.0 4.77572E-06
25170 60 S/I 139 rs1355222139 0.2426 None gnomAD-2.1.1 4.02E-06
25170 60 S/I 139 rs1355222139 0.2426 None gnomAD-4.0.0 3.18383E-06
25170 60 S/R 139 rs775835843 0.2426 None gnomAD-2.1.1 4.02E-06
25170 60 S/R 139 rs775835843 0.2426 None gnomAD-4.0.0 6.84329E-07
25171 61 V/I 140 None 0.1240 None gnomAD-4.0.0 1.59191E-06
25172 62 K/N 141 None 0.5453 None gnomAD-4.0.0 1.59193E-06
25173 63 D/E 143 rs1707836839 0.5743 None gnomAD-4.0.0 1.59189E-06
25173 63 D/H 143 rs980015868 0.5743 None gnomAD-3.1.2 1.32E-05
25173 63 D/H 143 rs980015868 0.5743 None gnomAD-4.0.0 7.43784E-06
25174 64 A/V 144 rs772038176 0.1327 None gnomAD-2.1.1 1.07E-05
25174 64 A/V 144 rs772038176 0.1327 None gnomAD-4.0.0 4.77585E-06
25175 65 V/A 145 rs1231900798 0.4021 None gnomAD-3.1.2 6.58E-06
25175 65 V/A 145 rs1231900798 0.4021 None gnomAD-4.0.0 6.5767E-06
25175 65 V/I 145 rs537603113 0.4021 None gnomAD-2.1.1 8.05E-06
25175 65 V/I 145 rs537603113 0.4021 None gnomAD-3.1.2 6.58E-06
25175 65 V/I 145 rs537603113 0.4021 None 1000 genomes 1.99681E-04
25175 65 V/I 145 rs537603113 0.4021 None gnomAD-4.0.0 8.0573E-06
25175 65 V/L 145 rs537603113 0.4021 None gnomAD-2.1.1 4.03E-06
25175 65 V/L 145 rs537603113 0.4021 None gnomAD-4.0.0 2.053E-06
25176 66 R/C 146 rs368339903 0.8336 None gnomAD-2.1.1 6.79E-05
25176 66 R/C 146 rs368339903 0.8336 None gnomAD-3.1.2 1.32E-05
25176 66 R/C 146 rs368339903 0.8336 None gnomAD-4.0.0 2.04554E-05
25176 66 R/H 146 rs375693396 0.8336 None gnomAD-2.1.1 1.03669E-04
25176 66 R/H 146 rs375693396 0.8336 None gnomAD-3.1.2 1.3153E-04
25176 66 R/H 146 rs375693396 0.8336 None 1000 genomes 1.99681E-04
25176 66 R/H 146 rs375693396 0.8336 None gnomAD-4.0.0 1.20862E-04
25176 66 R/S 146 None 0.8336 None gnomAD-4.0.0 6.84347E-07
25177 67 V/I 148 rs552074847 0.6931 None gnomAD-2.1.1 7.15E-06
25177 67 V/I 148 rs552074847 0.6931 None gnomAD-3.1.2 1.32E-05
25177 67 V/I 148 rs552074847 0.6931 None 1000 genomes 1.99681E-04
25177 67 V/I 148 rs552074847 0.6931 None gnomAD-4.0.0 3.0448E-06
25178 68 D/H 149 rs878863074 0.2309 None gnomAD-3.1.2 6.58E-06
25178 68 D/H 149 rs878863074 0.2309 None gnomAD-4.0.0 6.57678E-06
25178 68 D/N 149 rs878863074 0.2309 None gnomAD-2.1.1 1.43E-05
25178 68 D/N 149 rs878863074 0.2309 None gnomAD-3.1.2 2.63E-05
25178 68 D/N 149 rs878863074 0.2309 None gnomAD-4.0.0 1.36367E-05
25179 69 S/G 151 None 0.2400 None gnomAD-4.0.0 1.59201E-06
25179 69 S/I 151 rs1707825779 0.2400 None gnomAD-4.0.0 1.59203E-06
25179 69 S/T 151 rs1707825779 0.2400 None gnomAD-3.1.2 6.57E-06
25179 69 S/T 151 rs1707825779 0.2400 None gnomAD-4.0.0 6.57428E-06
25180 70 G/R 152 rs757992100 0.2639 None gnomAD-2.1.1 8.06E-06
25180 70 G/R 152 rs757992100 0.2639 None gnomAD-4.0.0 4.79047E-06
25180 70 G/V 152 rs745329154 0.2639 None gnomAD-2.1.1 1.21E-05
25180 70 G/V 152 rs745329154 0.2639 None gnomAD-3.1.2 6.58E-06
25180 70 G/V 152 rs745329154 0.2639 None gnomAD-4.0.0 1.54961E-05
25181 71 N/H 153 None 0.5737 None gnomAD-4.0.0 1.20032E-06
25183 73 I/K 155 None 0.2530 None gnomAD-4.0.0 1.02655E-05
25183 73 I/V 155 rs1180372550 0.2530 None gnomAD-3.1.2 6.57E-06
25183 73 I/V 155 rs1180372550 0.2530 None gnomAD-4.0.0 2.56343E-06
25184 74 L/V 156 None 0.0933 None gnomAD-4.0.0 6.84375E-07
25185 75 K/T 157 rs371042435 0.2628 None gnomAD-2.1.1 1.08826E-04
25185 75 K/T 157 rs371042435 0.2628 None gnomAD-3.1.2 3.29E-05
25185 75 K/T 157 rs371042435 0.2628 None 1000 genomes 1.99681E-04
25185 75 K/T 157 rs371042435 0.2628 None gnomAD-4.0.0 3.96671E-05
25186 76 A/S 158 rs1305259914 0.1019 None gnomAD-2.1.1 8.06E-06
25186 76 A/S 158 rs1305259914 0.1019 None gnomAD-4.0.0 3.4219E-06
25186 76 A/T 158 None 0.1019 None gnomAD-4.0.0 6.8438E-07
25188 78 N/D 161 None 0.1119 None gnomAD-4.0.0 1.20032E-06
25189 79 V/I 162 rs757224932 0.7859 None gnomAD-2.1.1 4.03E-06
25189 79 V/I 162 rs757224932 0.7859 None gnomAD-4.0.0 3.18431E-06
25190 80 A/E 163 rs1707808467 0.2806 None gnomAD-3.1.2 6.58E-06
25190 80 A/E 163 rs1707808467 0.2806 None gnomAD-4.0.0 6.57877E-06
25191 81 G/A 164 rs767718233 0.2280 None gnomAD-2.1.1 4.03E-06
25191 81 G/A 164 rs767718233 0.2280 None gnomAD-4.0.0 2.05318E-06
25191 81 G/E 164 None 0.2280 None gnomAD-2.1.1 2.15E-05
25191 81 G/E 164 None 0.2280 None gnomAD-3.1.2 2.63E-05
25191 81 G/E 164 None 0.2280 None gnomAD-4.0.0 2.16956E-05
25191 81 G/R 164 rs763964097 0.2280 None gnomAD-2.1.1 4.03E-06
25191 81 G/R 164 rs763964097 0.2280 None gnomAD-4.0.0 1.59226E-06
25191 81 G/V 164 rs767718233 0.2280 None gnomAD-2.1.1 4.03E-06
25191 81 G/V 164 rs767718233 0.2280 None gnomAD-4.0.0 4.10636E-06
25192 82 E/A 165 None 0.4124 None gnomAD-2.1.1 4.03E-06
25192 82 E/A 165 None 0.4124 None gnomAD-4.0.0 6.84394E-07
25192 82 E/G 165 rs998111823 0.4124 None gnomAD-3.1.2 1.32E-05
25192 82 E/G 165 rs998111823 0.4124 None gnomAD-4.0.0 2.47949E-06
25193 83 R/G 166 rs1175414210 0.3948 None gnomAD-4.0.0 1.59231E-06
25193 83 R/S 166 None 0.3948 None gnomAD-4.0.0 1.59229E-06
25197 87 V/M 172 rs559521606 0.2041 None gnomAD-2.1.1 1.21E-05
25197 87 V/M 172 rs559521606 0.2041 None gnomAD-3.1.2 6.58E-06
25197 87 V/M 172 rs559521606 0.2041 None 1000 genomes 1.99681E-04
25197 87 V/M 172 rs559521606 0.2041 None gnomAD-4.0.0 7.69057E-06
25200 90 K/M 175 None 0.5967 None gnomAD-4.0.0 1.36882E-06
25201 91 V/G 177 rs774448134 0.1538 None gnomAD-2.1.1 4.04E-06
25201 91 V/G 177 rs774448134 0.1538 None gnomAD-4.0.0 1.59235E-06
25201 91 V/I 177 rs1707800983 0.1538 None gnomAD-3.1.2 6.58E-06
25201 91 V/I 177 rs1707800983 0.1538 None gnomAD-4.0.0 2.03008E-06