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

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
25111 1 I/T 1 rs879132850 0.3629 None gnomAD-3.1.2 6.58E-06
25111 1 I/T 1 rs879132850 0.3629 None gnomAD-4.0.0 2.56315E-06
25112 2 S/T 2 rs984744354 0.4053 None gnomAD-2.1.1 4.02E-06
25112 2 S/T 2 rs984744354 0.4053 None gnomAD-4.0.0 1.59172E-06
25113 3 M/T 3 rs1707917158 0.2965 None gnomAD-3.1.2 6.58E-06
25113 3 M/T 3 rs1707917158 0.2965 None gnomAD-4.0.0 2.03007E-06
25114 4 D/H 4 rs373701934 0.3221 None gnomAD-3.1.2 6.58E-06
25114 4 D/H 4 rs373701934 0.3221 None gnomAD-4.0.0 2.03007E-06
25116 6 K/Q 6 rs900765170 0.2864 None gnomAD-3.1.2 6.57E-06
25116 6 K/Q 6 rs900765170 0.2864 None gnomAD-4.0.0 2.03E-06
25117 7 Y/C 7 rs1559394408 0.2109 None gnomAD-4.0.0 1.20032E-06
25118 8 K/E 8 rs1160362939 0.9073 None gnomAD-2.1.1 4.02E-06
25118 8 K/E 8 rs1160362939 0.9073 None gnomAD-4.0.0 1.5917E-06
25118 8 K/N 8 rs780754941 0.9073 None gnomAD-2.1.1 2.41E-05
25118 8 K/N 8 rs780754941 0.9073 None gnomAD-4.0.0 1.36859E-05
25121 11 I/T 13 rs751021006 0.2486 None gnomAD-2.1.1 4.03E-06
25121 11 I/T 13 rs751021006 0.2486 None gnomAD-4.0.0 1.59168E-06
25121 11 I/V 13 rs199508062 0.2486 None gnomAD-2.1.1 1.14367E-04
25121 11 I/V 13 rs199508062 0.2486 None gnomAD-3.1.2 3.28774E-04
25121 11 I/V 13 rs199508062 0.2486 None 1000 genomes 3.99361E-04
25121 11 I/V 13 rs199508062 0.2486 None gnomAD-4.0.0 6.01155E-05
25122 12 V/M 14 rs376821762 0.4438 None gnomAD-2.1.1 5.64E-05
25122 12 V/M 14 rs376821762 0.4438 None gnomAD-3.1.2 1.32E-05
25122 12 V/M 14 rs376821762 0.4438 None gnomAD-4.0.0 8.61509E-05
25123 13 V/A 16 rs1456861699 0.1844 None gnomAD-4.0.0 2.73714E-06
25124 14 H/P 18 None 0.4674 None gnomAD-4.0.0 2.40064E-06
25125 15 A/S 23 rs764929320 0.3882 None gnomAD-2.1.1 4.02E-06
25125 15 A/S 23 rs764929320 0.3882 None gnomAD-4.0.0 1.5917E-06
25126 16 G/D 24 rs776574546 0.3620 None gnomAD-2.1.1 4.02E-06
25126 16 G/D 24 rs776574546 0.3620 None gnomAD-4.0.0 1.36859E-06
25126 16 G/S 24 rs761767394 0.3620 None gnomAD-2.1.1 1.21E-05
25126 16 G/S 24 rs761767394 0.3620 None gnomAD-4.0.0 4.77514E-06
25127 17 E/G 25 rs768944134 0.3704 None gnomAD-2.1.1 4.02E-06
25127 17 E/G 25 rs768944134 0.3704 None gnomAD-3.1.2 6.58E-06
25127 17 E/G 25 rs768944134 0.3704 None gnomAD-4.0.0 2.0301E-06
25128 18 S/T 26 None 0.4395 None gnomAD-4.0.0 1.20032E-06
25129 19 F/C 28 None 0.2680 None gnomAD-4.0.0 6.84285E-07
25129 19 F/L 28 rs373411870 0.2680 None gnomAD-2.1.1 4.02E-06
25129 19 F/L 28 rs373411870 0.2680 None gnomAD-3.1.2 1.32E-05
25129 19 F/L 28 rs373411870 0.2680 None gnomAD-4.0.0 1.59168E-06
25129 19 F/Y 28 None 0.2680 None gnomAD-4.0.0 6.84285E-07
25131 21 V/F 30 None 0.1684 None gnomAD-4.0.0 1.36857E-06
25133 23 A/S 33 rs775396902 0.1832 None gnomAD-2.1.1 4.02E-06
25133 23 A/S 33 rs775396902 0.1832 None gnomAD-4.0.0 1.59163E-06
25133 23 A/V 33 rs772239178 0.1832 None gnomAD-2.1.1 4.02E-06
25133 23 A/V 33 rs772239178 0.1832 None gnomAD-4.0.0 1.36856E-06
25134 24 D/A 34 rs746343685 0.5207 None gnomAD-3.1.2 6.58E-06
25134 24 D/A 34 rs746343685 0.5207 None gnomAD-4.0.0 6.5754E-06
25134 24 D/G 34 rs746343685 0.5207 None gnomAD-2.1.1 4.02E-06
25134 24 D/G 34 rs746343685 0.5207 None gnomAD-3.1.2 6.58E-06
25134 24 D/G 34 rs746343685 0.5207 None gnomAD-4.0.0 2.56289E-06
25134 24 D/H 34 None 0.5207 None gnomAD-4.0.0 1.20032E-06
25136 26 Y/N 38 None 0.8548 None gnomAD-4.0.0 1.20032E-06
25137 27 G/A 40 rs369755096 0.4117 None gnomAD-2.1.1 2.14E-05
25137 27 G/A 40 rs369755096 0.4117 None gnomAD-3.1.2 7.89E-05
25137 27 G/A 40 rs369755096 0.4117 None gnomAD-4.0.0 1.11565E-05
25138 28 K/Q 41 rs1392761642 1.0556 None gnomAD-2.1.1 4.02E-06
25138 28 K/Q 41 rs1392761642 1.0556 None gnomAD-4.0.0 2.40064E-06
25138 28 K/R 41 rs376597438 1.0556 None gnomAD-2.1.1 8.04E-06
25138 28 K/R 41 rs376597438 1.0556 None gnomAD-3.1.2 1.97E-05
25138 28 K/R 41 rs376597438 1.0556 None gnomAD-4.0.0 2.54095E-05
25139 29 P/L 42 rs771430495 0.5548 None gnomAD-2.1.1 4.02E-06
25139 29 P/L 42 rs771430495 0.5548 None gnomAD-4.0.0 2.73714E-06
25139 29 P/S 42 rs1462179644 0.5548 None gnomAD-2.1.1 4.02E-06
25139 29 P/S 42 rs1462179644 0.5548 None gnomAD-4.0.0 1.59164E-06
25141 31 P/T 44 None 0.2763 None gnomAD-4.0.0 1.20032E-06
25142 32 T/A 45 rs1707881545 0.7204 None gnomAD-4.0.0 1.59167E-06
25143 33 I/T 46 rs988443056 0.3890 None gnomAD-4.0.0 1.59168E-06
25144 34 Q/L 47 rs1168512437 0.5737 None gnomAD-2.1.1 4.02E-06
25144 34 Q/L 47 rs1168512437 0.5737 None gnomAD-4.0.0 1.59167E-06
25146 36 I/K 49 None 0.3117 None gnomAD-4.0.0 1.20032E-06
25146 36 I/M 49 rs957042580 0.3117 None gnomAD-4.0.0 6.84293E-07
25148 38 G/C 51 None 0.4865 None gnomAD-4.0.0 6.84303E-07
25148 38 G/D 51 rs1206394112 0.4865 None gnomAD-3.1.2 1.32E-05
25148 38 G/D 51 rs1206394112 0.4865 None gnomAD-4.0.0 2.4792E-06
25148 38 G/R 51 None 0.4865 None gnomAD-4.0.0 7.52734E-06
25148 38 G/S 51 rs778131439 0.4865 None gnomAD-2.1.1 4.02E-06
25148 38 G/S 51 rs778131439 0.4865 None gnomAD-4.0.0 5.47443E-06
25149 39 D/V 52 None 1.1921 None gnomAD-4.0.0 1.59177E-06
25150 40 Q/E 55 rs1421628949 0.8471 None gnomAD-2.1.1 4.02E-06
25150 40 Q/E 55 rs1421628949 0.8471 None gnomAD-3.1.2 6.58E-06
25150 40 Q/E 55 rs1421628949 0.8471 None gnomAD-4.0.0 6.4084E-06
25150 40 Q/P 55 None 0.8471 None gnomAD-4.0.0 1.20032E-06
25150 40 Q/R 55 rs1264505015 0.8471 None gnomAD-3.1.2 6.57E-06
25150 40 Q/R 55 rs1264505015 0.8471 None gnomAD-4.0.0 6.57307E-06
25152 42 L/F 58 rs1467946546 0.3129 None gnomAD-2.1.1 4.02E-06
25152 42 L/V 58 rs1467946546 0.3129 None gnomAD-3.1.2 6.58E-06
25152 42 L/V 58 rs1467946546 0.3129 None gnomAD-4.0.0 1.85948E-06
25153 43 S/L 69 rs368058280 0.6459 None gnomAD-2.1.1 9.28E-05
25153 43 S/L 69 rs368058280 0.6459 None gnomAD-3.1.2 6.58E-05
25153 43 S/L 69 rs368058280 0.6459 None gnomAD-4.0.0 9.73036E-05
25154 44 N/D 70 None 0.5973 None gnomAD-4.0.0 1.59197E-06
25155 45 T/I 73 None 0.4312 None gnomAD-4.0.0 1.20032E-06
25157 47 R/L 115 None 0.4037 None gnomAD-4.0.0 6.84339E-07
25157 47 R/Q 115 rs779410073 0.4037 None gnomAD-2.1.1 2.41E-05
25157 47 R/Q 115 rs779410073 0.4037 None gnomAD-3.1.2 6.58E-06
25157 47 R/Q 115 rs779410073 0.4037 None gnomAD-4.0.0 8.67763E-06
25158 48 L/S 121 None 0.2150 None gnomAD-4.0.0 3.60097E-06
25159 49 E/G 122 None 0.4812 None gnomAD-4.0.0 1.20032E-06
25160 50 I/K 123 None 0.2661 None gnomAD-4.0.0 2.40064E-06
25161 51 K/N 125 rs1707854232 0.5662 None gnomAD-4.0.0 4.10597E-06
25162 52 S/G 127 rs889930941 0.5056 None gnomAD-2.1.1 4.02E-06
25162 52 S/N 127 None 0.5056 None gnomAD-4.0.0 6.84335E-07
25162 52 S/T 127 rs750324994 0.5056 None gnomAD-2.1.1 1.21E-05
25162 52 S/T 127 rs750324994 0.5056 None gnomAD-3.1.2 2.63E-05
25162 52 S/T 127 rs750324994 0.5056 None gnomAD-4.0.0 6.81768E-06
25163 53 T/A 130 rs879020274 0.5443 None gnomAD-2.1.1 1.43E-05
25163 53 T/A 130 rs879020274 0.5443 None gnomAD-3.1.2 3.94E-05
25163 53 T/A 130 rs879020274 0.5443 None gnomAD-4.0.0 2.78914E-05
25163 53 T/I 130 rs765157072 0.5443 None gnomAD-2.1.1 4.02E-06
25163 53 T/I 130 rs765157072 0.5443 None gnomAD-3.1.2 6.58E-06
25163 53 T/I 130 rs765157072 0.5443 None gnomAD-4.0.0 2.47937E-06
25163 53 T/N 130 None 0.5443 None gnomAD-4.0.0 6.84335E-07
25164 54 D/N 131 rs192468365 0.7274 None gnomAD-2.1.1 6.07E-05
25164 54 D/N 131 rs192468365 0.7274 None gnomAD-3.1.2 1.57824E-04
25164 54 D/N 131 rs192468365 0.7274 None 1000 genomes 5.99042E-04
25164 54 D/N 131 rs192468365 0.7274 None gnomAD-4.0.0 4.02865E-05
25165 55 F/L 134 rs879163890 0.6195 None gnomAD-2.1.1 1.07E-05
25165 55 F/L 134 rs879163890 0.6195 None gnomAD-3.1.2 1.32E-05
25165 55 F/L 134 rs879163890 0.6195 None gnomAD-4.0.0 3.84489E-06
25166 56 A/V 135 rs753641145 0.2582 None gnomAD-2.1.1 4.02E-06
25166 56 A/V 135 rs753641145 0.2582 None gnomAD-4.0.0 8.21211E-06
25167 57 T/I 136 rs1396100350 0.1959 None gnomAD-2.1.1 8.05E-06
25167 57 T/I 136 rs1396100350 0.1959 None gnomAD-4.0.0 2.05299E-06
25168 58 S/R 137 rs938587020 0.2234 None gnomAD-2.1.1 9.29E-05
25168 58 S/R 137 rs938587020 0.2234 None gnomAD-3.1.2 2.95932E-04
25168 58 S/R 137 rs938587020 0.2234 None 1000 genomes 5.99042E-04
25168 58 S/R 137 rs938587020 0.2234 None gnomAD-4.0.0 4.77572E-06
25170 60 S/I 139 rs1355222139 0.2654 None gnomAD-2.1.1 4.02E-06
25170 60 S/I 139 rs1355222139 0.2654 None gnomAD-4.0.0 3.18383E-06
25170 60 S/R 139 rs775835843 0.2654 None gnomAD-2.1.1 4.02E-06
25170 60 S/R 139 rs775835843 0.2654 None gnomAD-4.0.0 6.84329E-07
25171 61 V/I 140 None 0.1502 None gnomAD-4.0.0 1.59191E-06
25172 62 K/N 141 None 0.7515 None gnomAD-4.0.0 1.59193E-06
25173 63 D/E 143 rs1707836839 0.7364 None gnomAD-4.0.0 1.59189E-06
25173 63 D/H 143 rs980015868 0.7364 None gnomAD-3.1.2 1.32E-05
25173 63 D/H 143 rs980015868 0.7364 None gnomAD-4.0.0 7.43784E-06
25174 64 A/V 144 rs772038176 0.1357 None gnomAD-2.1.1 1.07E-05
25174 64 A/V 144 rs772038176 0.1357 None gnomAD-4.0.0 4.77585E-06
25175 65 V/A 145 rs1231900798 0.3681 None gnomAD-3.1.2 6.58E-06
25175 65 V/A 145 rs1231900798 0.3681 None gnomAD-4.0.0 6.5767E-06
25175 65 V/I 145 rs537603113 0.3681 None gnomAD-2.1.1 8.05E-06
25175 65 V/I 145 rs537603113 0.3681 None gnomAD-3.1.2 6.58E-06
25175 65 V/I 145 rs537603113 0.3681 None 1000 genomes 1.99681E-04
25175 65 V/I 145 rs537603113 0.3681 None gnomAD-4.0.0 8.0573E-06
25175 65 V/L 145 rs537603113 0.3681 None gnomAD-2.1.1 4.03E-06
25175 65 V/L 145 rs537603113 0.3681 None gnomAD-4.0.0 2.053E-06
25176 66 R/C 146 rs368339903 0.3378 None gnomAD-2.1.1 6.79E-05
25176 66 R/C 146 rs368339903 0.3378 None gnomAD-3.1.2 1.32E-05
25176 66 R/C 146 rs368339903 0.3378 None gnomAD-4.0.0 2.04554E-05
25176 66 R/H 146 rs375693396 0.3378 None gnomAD-2.1.1 1.03669E-04
25176 66 R/H 146 rs375693396 0.3378 None gnomAD-3.1.2 1.3153E-04
25176 66 R/H 146 rs375693396 0.3378 None 1000 genomes 1.99681E-04
25176 66 R/H 146 rs375693396 0.3378 None gnomAD-4.0.0 1.20862E-04
25176 66 R/S 146 None 0.3378 None gnomAD-4.0.0 6.84347E-07
25177 67 V/I 148 rs552074847 0.6507 None gnomAD-2.1.1 7.15E-06
25177 67 V/I 148 rs552074847 0.6507 None gnomAD-3.1.2 1.32E-05
25177 67 V/I 148 rs552074847 0.6507 None 1000 genomes 1.99681E-04
25177 67 V/I 148 rs552074847 0.6507 None gnomAD-4.0.0 3.0448E-06
25178 68 D/H 149 rs878863074 0.2278 None gnomAD-3.1.2 6.58E-06
25178 68 D/H 149 rs878863074 0.2278 None gnomAD-4.0.0 6.57678E-06
25178 68 D/N 149 rs878863074 0.2278 None gnomAD-2.1.1 1.43E-05
25178 68 D/N 149 rs878863074 0.2278 None gnomAD-3.1.2 2.63E-05
25178 68 D/N 149 rs878863074 0.2278 None gnomAD-4.0.0 1.36367E-05
25179 69 S/G 151 None 0.2932 None gnomAD-4.0.0 1.59201E-06
25179 69 S/I 151 rs1707825779 0.2932 None gnomAD-4.0.0 1.59203E-06
25179 69 S/T 151 rs1707825779 0.2932 None gnomAD-3.1.2 6.57E-06
25179 69 S/T 151 rs1707825779 0.2932 None gnomAD-4.0.0 6.57428E-06
25180 70 G/R 152 rs757992100 0.2567 None gnomAD-2.1.1 8.06E-06
25180 70 G/R 152 rs757992100 0.2567 None gnomAD-4.0.0 4.79047E-06
25180 70 G/V 152 rs745329154 0.2567 None gnomAD-2.1.1 1.21E-05
25180 70 G/V 152 rs745329154 0.2567 None gnomAD-3.1.2 6.58E-06
25180 70 G/V 152 rs745329154 0.2567 None gnomAD-4.0.0 1.54961E-05
25181 71 N/H 153 None 0.6120 None gnomAD-4.0.0 1.20032E-06
25183 73 I/K 155 None 0.3239 None gnomAD-4.0.0 1.02655E-05
25183 73 I/V 155 rs1180372550 0.3239 None gnomAD-3.1.2 6.57E-06
25183 73 I/V 155 rs1180372550 0.3239 None gnomAD-4.0.0 2.56343E-06
25184 74 L/V 156 None 0.1439 None gnomAD-4.0.0 6.84375E-07
25185 75 K/T 157 rs371042435 0.4141 None gnomAD-2.1.1 1.08826E-04
25185 75 K/T 157 rs371042435 0.4141 None gnomAD-3.1.2 3.29E-05
25185 75 K/T 157 rs371042435 0.4141 None 1000 genomes 1.99681E-04
25185 75 K/T 157 rs371042435 0.4141 None gnomAD-4.0.0 3.96671E-05
25186 76 A/S 158 rs1305259914 0.1920 None gnomAD-2.1.1 8.06E-06
25186 76 A/S 158 rs1305259914 0.1920 None gnomAD-4.0.0 3.4219E-06
25186 76 A/T 158 None 0.1920 None gnomAD-4.0.0 6.8438E-07
25188 78 N/D 161 None 0.2225 None gnomAD-4.0.0 1.20032E-06
25189 79 V/I 162 rs757224932 0.7990 None gnomAD-2.1.1 4.03E-06
25189 79 V/I 162 rs757224932 0.7990 None gnomAD-4.0.0 3.18431E-06
25190 80 A/E 163 rs1707808467 0.7346 None gnomAD-3.1.2 6.58E-06
25190 80 A/E 163 rs1707808467 0.7346 None gnomAD-4.0.0 6.57877E-06
25191 81 G/A 164 rs767718233 0.3775 None gnomAD-2.1.1 4.03E-06
25191 81 G/A 164 rs767718233 0.3775 None gnomAD-4.0.0 2.05318E-06
25191 81 G/E 164 None 0.3775 None gnomAD-2.1.1 2.15E-05
25191 81 G/E 164 None 0.3775 None gnomAD-3.1.2 2.63E-05
25191 81 G/E 164 None 0.3775 None gnomAD-4.0.0 2.16956E-05
25191 81 G/R 164 rs763964097 0.3775 None gnomAD-2.1.1 4.03E-06
25191 81 G/R 164 rs763964097 0.3775 None gnomAD-4.0.0 1.59226E-06
25191 81 G/V 164 rs767718233 0.3775 None gnomAD-2.1.1 4.03E-06
25191 81 G/V 164 rs767718233 0.3775 None gnomAD-4.0.0 4.10636E-06
25192 82 E/A 165 None 0.5195 None gnomAD-2.1.1 4.03E-06
25192 82 E/A 165 None 0.5195 None gnomAD-4.0.0 6.84394E-07
25192 82 E/G 165 rs998111823 0.5195 None gnomAD-3.1.2 1.32E-05
25192 82 E/G 165 rs998111823 0.5195 None gnomAD-4.0.0 2.47949E-06
25193 83 R/G 166 rs1175414210 0.7007 None gnomAD-4.0.0 1.59231E-06
25193 83 R/S 166 None 0.7007 None gnomAD-4.0.0 1.59229E-06
25197 87 V/M 172 rs559521606 0.2283 None gnomAD-2.1.1 1.21E-05
25197 87 V/M 172 rs559521606 0.2283 None gnomAD-3.1.2 6.58E-06
25197 87 V/M 172 rs559521606 0.2283 None 1000 genomes 1.99681E-04
25197 87 V/M 172 rs559521606 0.2283 None gnomAD-4.0.0 7.69057E-06
25200 90 K/M 175 None 0.4304 None gnomAD-4.0.0 1.36882E-06
25201 91 V/G 177 rs774448134 0.1451 None gnomAD-2.1.1 4.04E-06
25201 91 V/G 177 rs774448134 0.1451 None gnomAD-4.0.0 1.59235E-06
25201 91 V/I 177 rs1707800983 0.1451 None gnomAD-3.1.2 6.58E-06
25201 91 V/I 177 rs1707800983 0.1451 None gnomAD-4.0.0 2.03008E-06