Select a Data Table to View:



Download domain sequence (FASTA)
Export SAV table to CSV

Select columns to include

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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
6105 1 P/L 1 None 0.1984 None gnomAD-4.0.0 1.59812E-06
6109 5 K/E 5 rs73973139 0.5172 None gnomAD-2.1.1 3.10033E-04
6109 5 K/E 5 rs73973139 0.5172 None gnomAD-3.1.2 8.41131E-04
6109 5 K/E 5 rs73973139 0.5172 None 1000 genomes 9.98403E-04
6109 5 K/E 5 rs73973139 0.5172 None gnomAD-4.0.0 2.00315E-04
6109 5 K/N 5 rs556770980 0.5172 None gnomAD-2.1.1 4.06E-06
6109 5 K/N 5 rs556770980 0.5172 None gnomAD-3.1.2 6.57E-06
6109 5 K/N 5 rs556770980 0.5172 None 1000 genomes 1.99681E-04
6109 5 K/N 5 rs556770980 0.5172 None gnomAD-4.0.0 3.72104E-06
6110 6 K/N 7 rs1350814757 0.6346 None gnomAD-4.0.0 1.5942E-06
6111 7 P/H 8 rs753241275 0.2579 None gnomAD-2.1.1 4.05E-06
6111 7 P/H 8 rs753241275 0.2579 None gnomAD-4.0.0 1.59376E-06
6112 8 S/G 9 None 0.6974 None gnomAD-4.0.0 1.20032E-06
6114 10 V/A 13 None 0.4282 None gnomAD-4.0.0 1.20032E-06
6114 10 V/D 13 None 0.4282 None gnomAD-4.0.0 1.20032E-06
6114 10 V/I 13 rs762371825 0.4282 None gnomAD-2.1.1 8.08E-06
6114 10 V/I 13 rs762371825 0.4282 None gnomAD-4.0.0 9.58383E-06
6115 11 L/F 14 rs771329302 1.1377 None gnomAD-4.0.0 2.73784E-06
6116 12 V/A 15 rs2154307658 0.3538 None gnomAD-4.0.0 1.36889E-06
6116 12 V/M 15 rs772718770 0.3538 None gnomAD-2.1.1 1.07E-05
6116 12 V/M 15 rs772718770 0.3538 None gnomAD-3.1.2 2.63E-05
6116 12 V/M 15 rs772718770 0.3538 None gnomAD-4.0.0 7.69164E-06
6117 13 L/M 16 rs2154307656 0.1698 None gnomAD-4.0.0 1.20032E-06
6117 13 L/P 16 None 0.1698 None gnomAD-4.0.0 3.18489E-06
6118 14 R/K 18 rs2154307652 0.5720 None gnomAD-4.0.0 1.59235E-06
6118 14 R/S 18 None 0.5720 None gnomAD-4.0.0 3.18468E-06
6119 15 N/S 23 None 0.4439 None gnomAD-4.0.0 4.77681E-06
6120 16 G/A 24 rs764816850 0.3282 None gnomAD-2.1.1 2.01E-05
6120 16 G/A 24 rs764816850 0.3282 None gnomAD-3.1.2 6.57E-06
6120 16 G/A 24 rs764816850 0.3282 None gnomAD-4.0.0 1.53814E-05
6122 18 S/P 26 rs2080087332 0.3818 None gnomAD-4.0.0 1.59206E-06
6124 20 T/A 29 None 0.3253 None gnomAD-4.0.0 3.60097E-06
6124 20 T/I 29 rs1280788914 0.3253 None gnomAD-2.1.1 4.03E-06
6124 20 T/I 29 rs1280788914 0.3253 None gnomAD-4.0.0 1.3687E-06
6124 20 T/K 29 rs1280788914 0.3253 None gnomAD-2.1.1 4.03E-06
6124 20 T/K 29 rs1280788914 0.3253 None gnomAD-4.0.0 6.84348E-07
6125 21 F/L 30 None 0.1317 None gnomAD-4.0.0 6.84338E-07
6125 21 F/S 30 rs375003845 0.1317 None gnomAD-2.1.1 4.03E-06
6125 21 F/S 30 rs375003845 0.1317 None gnomAD-3.1.2 1.97E-05
6125 21 F/S 30 rs375003845 0.1317 None gnomAD-4.0.0 2.29329E-05
6126 22 E/A 31 rs1328808708 0.4686 None gnomAD-2.1.1 3.22E-05
6126 22 E/A 31 rs1328808708 0.4686 None gnomAD-4.0.0 7.52765E-06
6126 22 E/G 31 rs1328808708 0.4686 None gnomAD-3.1.2 6.57E-06
6126 22 E/G 31 rs1328808708 0.4686 None gnomAD-4.0.0 5.57816E-06
6126 22 E/Q 31 rs1332146833 0.4686 None gnomAD-2.1.1 4.03E-06
6126 22 E/Q 31 rs1332146833 0.4686 None gnomAD-4.0.0 3.18387E-06
6127 23 C/F 33 None 0.0918 None gnomAD-4.0.0 1.20032E-06
6127 23 C/G 33 rs370812788 0.0918 None gnomAD-2.1.1 4.68121E-04
6127 23 C/G 33 rs370812788 0.0918 None gnomAD-3.1.2 1.31422E-04
6127 23 C/G 33 rs370812788 0.0918 None 1000 genomes 3.99361E-04
6127 23 C/G 33 rs370812788 0.0918 None gnomAD-4.0.0 1.21467E-04
6128 24 Q/R 34 None 0.2167 None gnomAD-4.0.0 1.59179E-06
6129 25 I/V 35 rs2080081483 0.0920 None gnomAD-3.1.2 6.57E-06
6129 25 I/V 35 rs2080081483 0.0920 None gnomAD-4.0.0 2.02988E-06
6130 26 T/R 38 rs1379804888 0.4705 None gnomAD-3.1.2 1.31E-05
6130 26 T/R 38 rs1379804888 0.4705 None gnomAD-4.0.0 8.96994E-06
6130 26 T/S 38 rs794727816 0.4705 None gnomAD-4.0.0 3.60097E-06
6132 28 T/A 41 None 0.7942 None gnomAD-4.0.0 1.20032E-06
6135 31 I/V 44 rs935669018 0.1238 None gnomAD-3.1.2 1.31E-05
6135 31 I/V 44 rs935669018 0.1238 None gnomAD-4.0.0 3.84409E-06
6136 32 R/Q 45 rs117551279 0.7625 None gnomAD-2.1.1 4.53549E-04
6136 32 R/Q 45 rs117551279 0.7625 None gnomAD-3.1.2 2.03813E-04
6136 32 R/Q 45 rs117551279 0.7625 None 1000 genomes 1.19808E-03
6136 32 R/Q 45 rs117551279 0.7625 None gnomAD-4.0.0 1.26422E-04
6137 33 V/A 46 None 0.2326 None gnomAD-4.0.0 6.84258E-07
6137 33 V/G 46 None 0.2326 None gnomAD-4.0.0 6.84258E-07
6137 33 V/M 46 None 0.2326 None gnomAD-4.0.0 1.20032E-06
6138 34 S/F 47 None 0.2592 None gnomAD-4.0.0 6.84262E-07
6138 34 S/Y 47 rs727504477 0.2592 None gnomAD-2.1.1 4.02E-06
6138 34 S/Y 47 rs727504477 0.2592 None gnomAD-4.0.0 7.52688E-06
6140 36 Y/C 49 rs1181020679 0.2147 None gnomAD-2.1.1 4.02E-06
6140 36 Y/C 49 rs1181020679 0.2147 None gnomAD-4.0.0 1.59153E-06
6140 36 Y/H 49 None 0.2147 None gnomAD-4.0.0 1.59151E-06
6142 38 D/E 51 None 0.5436 None gnomAD-4.0.0 3.42126E-06
6142 38 D/G 51 None 0.5436 None gnomAD-4.0.0 1.20032E-06
6143 39 G/R 52 rs757453585 0.4240 None gnomAD-2.1.1 1.61E-05
6143 39 G/R 52 rs757453585 0.4240 None gnomAD-3.1.2 1.97E-05
6143 39 G/R 52 rs757453585 0.4240 None gnomAD-4.0.0 7.43716E-06
6146 42 I/T 58 rs1578142340 0.2031 None gnomAD-4.0.0 1.36851E-06
6146 42 I/V 58 rs2080073128 0.2031 None gnomAD-3.1.2 6.57E-06
6146 42 I/V 58 rs2080073128 0.2031 None gnomAD-4.0.0 6.57065E-06
6149 45 I/V 73 rs368897297 1.0574 None gnomAD-2.1.1 1.43E-05
6149 45 I/V 73 rs368897297 1.0574 None gnomAD-3.1.2 1.97E-05
6149 45 I/V 73 rs368897297 1.0574 None gnomAD-4.0.0 3.03638E-05
6152 48 H/L 121 rs2080071193 1.1671 None gnomAD-4.0.0 3.18298E-06
6152 48 H/R 121 None 1.1671 None gnomAD-4.0.0 1.59149E-06
6153 49 G/D 122 rs374460910 0.2486 None gnomAD-2.1.1 8.04E-06
6153 49 G/D 122 rs374460910 0.2486 None gnomAD-3.1.2 6.57E-06
6153 49 G/D 122 rs374460910 0.2486 None gnomAD-4.0.0 1.11553E-05
6155 51 S/A 125 rs768149481 0.3123 None gnomAD-2.1.1 1.07E-05
6155 51 S/A 125 rs768149481 0.3123 None gnomAD-3.1.2 6.57E-06
6155 51 S/A 125 rs768149481 0.3123 None gnomAD-4.0.0 1.85913E-06
6157 53 I/T 130 rs371882162 0.7169 None gnomAD-2.1.1 6.78E-05
6157 53 I/T 130 rs371882162 0.7169 None gnomAD-3.1.2 7.89E-05
6157 53 I/T 130 rs371882162 0.7169 None gnomAD-4.0.0 7.87055E-05
6157 53 I/V 130 None 0.7169 None gnomAD-4.0.0 1.20032E-06
6158 54 D/G 131 None 0.9685 None gnomAD-4.0.0 3.18276E-06
6158 54 D/N 131 rs2080068286 0.9685 None gnomAD-4.0.0 5.47383E-06
6159 55 G/A 134 rs1214856110 0.1520 None gnomAD-2.1.1 3.19E-05
6159 55 G/A 134 rs1214856110 0.1520 None gnomAD-3.1.2 6.57E-06
6159 55 G/A 134 rs1214856110 0.1520 None gnomAD-4.0.0 6.57367E-06
6159 55 G/D 134 None 0.1520 None gnomAD-4.0.0 1.43226E-05
6161 57 A/P 136 None 0.0825 None gnomAD-4.0.0 1.20032E-06
6162 58 T/I 137 rs367685188 0.2129 None gnomAD-2.1.1 1.07E-05
6162 58 T/I 137 rs367685188 0.2129 None gnomAD-3.1.2 3.29E-05
6162 58 T/I 137 rs367685188 0.2129 None gnomAD-4.0.0 6.0897E-06
6163 59 F/S 138 rs1458021092 0.1005 None gnomAD-4.0.0 1.59137E-06
6165 61 I/F 140 None 0.1104 None gnomAD-4.0.0 1.59137E-06
6165 61 I/T 140 None 0.1104 None gnomAD-4.0.0 1.20032E-06
6165 61 I/V 140 rs886055296 0.1104 None gnomAD-4.0.0 1.59137E-06
6166 62 S/A 141 None 0.5774 None gnomAD-4.0.0 1.20032E-06
6167 63 G/C 143 None 0.2870 None gnomAD-4.0.0 1.59137E-06
6168 64 A/T 144 rs764768881 0.0963 None gnomAD-2.1.1 1.79E-05
6168 64 A/T 144 rs764768881 0.0963 None gnomAD-3.1.2 6.57E-06
6168 64 A/T 144 rs764768881 0.0963 None gnomAD-4.0.0 2.16901E-05
6169 65 R/G 145 None 0.5678 None gnomAD-4.0.0 1.20032E-06
6169 65 R/K 145 None 0.5678 None gnomAD-4.0.0 1.59133E-06
6169 65 R/T 145 None 0.5678 None gnomAD-4.0.0 1.59133E-06
6173 69 S/G 151 None 0.1898 None gnomAD-4.0.0 1.36846E-06
6173 69 S/N 151 rs1243375835 0.1898 None gnomAD-2.1.1 3.18E-05
6173 69 S/R 151 rs1452419316 0.1898 None gnomAD-2.1.1 4.02E-06
6173 69 S/R 151 rs1452419316 0.1898 None gnomAD-4.0.0 3.18277E-06
6174 70 G/V 152 None 0.1723 None gnomAD-4.0.0 4.78963E-06
6176 72 Y/H 154 None 0.0929 None gnomAD-4.0.0 1.59136E-06
6177 73 V/A 155 rs2080061909 0.2132 None gnomAD-4.0.0 1.59135E-06
6177 73 V/L 155 None 0.2132 None gnomAD-4.0.0 6.00161E-06
6177 73 V/M 155 rs1553921514 0.2132 None gnomAD-4.0.0 4.80129E-06
6178 74 C/W 156 rs1560777515 0.0687 None gnomAD-2.1.1 4.02E-06
6178 74 C/W 156 rs1560777515 0.0687 None gnomAD-4.0.0 1.59136E-06
6178 74 C/Y 156 rs760469804 0.0687 None gnomAD-2.1.1 4.02E-06
6179 75 E/K 157 None 0.2891 None gnomAD-4.0.0 1.20032E-06
6179 75 E/V 157 None 0.2891 None gnomAD-4.0.0 1.5914E-06
6180 76 A/P 158 None 0.0791 None gnomAD-4.0.0 1.36847E-06
6180 76 A/S 158 None 0.0791 None gnomAD-4.0.0 4.10542E-06
6181 77 R/L 159 rs201951252 0.6407 None gnomAD-3.1.2 6.57E-06
6181 77 R/L 159 rs201951252 0.6407 None gnomAD-4.0.0 1.23944E-06
6181 77 R/Q 159 rs201951252 0.6407 None gnomAD-2.1.1 2.14E-05
6181 77 R/Q 159 rs201951252 0.6407 None gnomAD-3.1.2 5.92E-05
6181 77 R/Q 159 rs201951252 0.6407 None gnomAD-4.0.0 2.78874E-05
6183 79 D/G 162 None 1.0019 None gnomAD-4.0.0 1.20032E-06
6183 79 D/N 162 None 1.0019 None gnomAD-4.0.0 1.59139E-06
6184 80 A/S 163 None 0.6695 None gnomAD-4.0.0 1.36848E-06
6184 80 A/T 163 rs72648947 0.6695 None gnomAD-2.1.1 3.82553E-04
6184 80 A/T 163 rs72648947 0.6695 None gnomAD-3.1.2 4.53607E-04
6184 80 A/T 163 rs72648947 0.6695 None gnomAD-4.0.0 3.69336E-04
6185 81 G/S 164 rs1460731482 0.2707 None gnomAD-2.1.1 4.03E-06
6185 81 G/S 164 rs1460731482 0.2707 None gnomAD-4.0.0 3.18279E-06
6186 82 T/A 165 None 0.6315 None gnomAD-4.0.0 1.59141E-06
6186 82 T/K 165 None 0.6315 None gnomAD-3.1.2 6.57E-06
6186 82 T/K 165 None 0.6315 None gnomAD-4.0.0 6.5735E-06
6186 82 T/M 165 rs200359082 0.6315 None gnomAD-2.1.1 1.14439E-04
6186 82 T/M 165 rs200359082 0.6315 None gnomAD-3.1.2 9.2E-05
6186 82 T/M 165 rs200359082 0.6315 None gnomAD-4.0.0 8.98617E-05
6186 82 T/R 165 rs200359082 0.6315 None gnomAD-2.1.1 4.03E-06
6186 82 T/R 165 rs200359082 0.6315 None gnomAD-4.0.0 6.84245E-07
6187 83 A/V 166 rs758380777 0.1892 None gnomAD-2.1.1 2.82E-05
6187 83 A/V 166 rs758380777 0.1892 None gnomAD-3.1.2 1.97E-05
6187 83 A/V 166 rs758380777 0.1892 None gnomAD-4.0.0 7.43705E-06
6188 84 S/G 168 rs781653231 0.4185 None gnomAD-2.1.1 1.43E-05
6188 84 S/G 168 rs781653231 0.4185 None gnomAD-3.1.2 1.97E-05
6188 84 S/G 168 rs781653231 0.4185 None gnomAD-4.0.0 6.40645E-06
6190 86 S/R 171 rs755474413 0.5453 None gnomAD-2.1.1 4.03E-06
6190 86 S/R 171 rs755474413 0.5453 None gnomAD-3.1.2 6.57E-06
6190 86 S/R 171 rs755474413 0.5453 None gnomAD-4.0.0 3.09869E-06
6191 87 I/T 172 rs752079323 0.1241 None gnomAD-2.1.1 3.63E-05
6191 87 I/T 172 rs752079323 0.1241 None gnomAD-4.0.0 2.70549E-05
6191 87 I/V 172 None 0.1241 None gnomAD-4.0.0 1.59146E-06
6192 88 E/K 173 rs1457411847 0.5656 None gnomAD-2.1.1 3.18E-05
6192 88 E/K 173 rs1457411847 0.5656 None gnomAD-3.1.2 1.31E-05
6192 88 E/K 173 rs1457411847 0.5656 None gnomAD-4.0.0 1.31441E-05
6193 89 L/F 174 rs778348811 0.1156 None gnomAD-2.1.1 4.03E-06