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

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
33101 1 P/L 1 None 0.2239 None gnomAD-4.0.0 1.60306E-06
33102 2 G/E 2 rs751364205 0.2689 None gnomAD-2.1.1 4.11E-06
33102 2 G/E 2 rs751364205 0.2689 None gnomAD-3.1.2 6.57E-06
33102 2 G/E 2 rs751364205 0.2689 None gnomAD-4.0.0 5.59203E-06
33102 2 G/R 2 rs548615687 0.2689 None 1000 genomes 1.99681E-04
33102 2 G/R 2 rs548615687 0.2689 None gnomAD-2.1.1 3.18E-05
33102 2 G/R 2 rs548615687 0.2689 None gnomAD-3.1.2 6.57E-06
33102 2 G/R 2 rs548615687 0.2689 None gnomAD-4.0.0 2.48548E-06
33103 3 I/K 3 rs1251000688 0.2692 None gnomAD-2.1.1 4.09E-06
33103 3 I/K 3 rs1251000688 0.2692 None gnomAD-3.1.2 1.97E-05
33103 3 I/K 3 rs1251000688 0.2692 None gnomAD-4.0.0 1.97153E-05
33103 3 I/L 3 rs1490474972 0.2692 None gnomAD-2.1.1 4.09E-06
33104 4 R/C 4 rs766169253 0.6782 None gnomAD-2.1.1 2.86E-05
33104 4 R/C 4 rs766169253 0.6782 None gnomAD-3.1.2 3.29E-05
33104 4 R/C 4 rs766169253 0.6782 None gnomAD-4.0.0 4.40852E-05
33104 4 R/H 4 rs758617553 0.6782 None gnomAD-2.1.1 1.09E-05
33104 4 R/H 4 rs758617553 0.6782 None gnomAD-3.1.2 6.57E-06
33104 4 R/H 4 rs758617553 0.6782 None gnomAD-4.0.0 6.82943E-06
33104 4 R/L 4 rs758617553 0.6782 None gnomAD-3.1.2 6.57E-06
33104 4 R/L 4 rs758617553 0.6782 None gnomAD-4.0.0 6.57471E-06
33105 5 K/I 5 rs1196579817 0.5080 None gnomAD-2.1.1 4.07E-06
33105 5 K/I 5 rs1196579817 0.5080 None gnomAD-3.1.2 6.57E-06
33105 5 K/I 5 rs1196579817 0.5080 None gnomAD-4.0.0 2.56885E-06
33106 6 E/K 7 None 0.7196 None gnomAD-4.0.0 6.85091E-07
33107 7 M/V 8 None 0.1205 None gnomAD-4.0.0 2.73991E-06
33107 7 M/T 8 rs942438397 0.1205 None gnomAD-3.1.2 1.31E-05
33107 7 M/T 8 rs942438397 0.1205 None gnomAD-4.0.0 5.07487E-06
33107 7 M/I 8 None 0.1205 None gnomAD-4.0.0 1.20032E-06
33108 8 K/N 9 rs1281729370 0.8242 None gnomAD-2.1.1 4.05E-06
33108 8 K/N 9 rs1281729370 0.8242 None gnomAD-4.0.0 1.59466E-06
33109 9 D/G 11 rs1481058510 0.4831 None gnomAD-2.1.1 3.18E-05
33109 9 D/G 11 rs1481058510 0.4831 None gnomAD-3.1.2 6.57E-06
33109 9 D/G 11 rs1481058510 0.4831 None gnomAD-4.0.0 6.57047E-06
33109 9 D/N 11 None 0.4831 None gnomAD-4.0.0 1.20032E-06
33110 10 V/I 13 rs765303215 0.2653 None gnomAD-2.1.1 4.04E-06
33110 10 V/I 13 rs765303215 0.2653 None gnomAD-4.0.0 1.59338E-06
33112 12 T/K 16 rs374883160 0.1694 None gnomAD-2.1.1 3.23E-05
33112 12 T/K 16 rs374883160 0.1694 None gnomAD-3.1.2 3.94E-05
33112 12 T/K 16 rs374883160 0.1694 None gnomAD-4.0.0 4.02945E-05
33112 12 T/A 16 rs761837150 0.1694 None gnomAD-2.1.1 4.04E-06
33112 12 T/A 16 rs761837150 0.1694 None gnomAD-4.0.0 1.5927E-06
33113 13 K/E 18 None 0.4568 None gnomAD-4.0.0 1.20032E-06
33114 14 L/F 23 rs1203503394 0.4834 None gnomAD-2.1.1 3.18E-05
33114 14 L/F 23 rs1203503394 0.4834 None gnomAD-3.1.2 1.31E-05
33114 14 L/F 23 rs1203503394 0.4834 None gnomAD-4.0.0 3.84546E-06
33115 15 G/D 24 rs879247634 0.4316 None gnomAD-2.1.1 7.16E-06
33115 15 G/D 24 rs879247634 0.4316 None gnomAD-3.1.2 2.63E-05
33115 15 G/D 24 rs879247634 0.4316 None gnomAD-4.0.0 7.69039E-06
33117 17 A/T 26 None 0.4428 None gnomAD-4.0.0 1.59213E-06
33117 17 A/S 26 rs878926959 0.4428 None gnomAD-2.1.1 4.03E-06
33117 17 A/S 26 rs878926959 0.4428 None gnomAD-4.0.0 1.59213E-06
33117 17 A/P 26 rs878926959 0.4428 None gnomAD-3.1.2 6.57E-06
33117 17 A/P 26 rs878926959 0.4428 None gnomAD-4.0.0 6.57134E-06
33118 18 A/T 28 None 0.1541 None gnomAD-4.0.0 1.59217E-06
33118 18 A/S 28 rs1403450047 0.1541 None gnomAD-2.1.1 4.03E-06
33119 19 Q/R 29 rs775783429 0.6380 None gnomAD-2.1.1 2.42E-05
33119 19 Q/R 29 rs775783429 0.6380 None gnomAD-4.0.0 2.06933E-05
33120 20 L/F 30 rs772473414 0.1287 None gnomAD-2.1.1 2.14E-05
33120 20 L/F 30 rs772473414 0.1287 None gnomAD-3.1.2 3.29E-05
33120 20 L/F 30 rs772473414 0.1287 None gnomAD-4.0.0 1.1156E-05
33122 22 C/F 33 rs1692294550 0.1067 None gnomAD-4.0.0 4.77517E-06
33122 22 C/R 33 None 0.1067 None gnomAD-4.0.0 1.20032E-06
33124 24 I/T 35 rs1460988809 0.1378 None gnomAD-2.1.1 4.02E-06
33124 24 I/T 35 rs1460988809 0.1378 None gnomAD-4.0.0 2.73708E-06
33125 25 V/L 38 rs1692289481 0.3665 None gnomAD-4.0.0 3.18323E-06
33126 26 G/E 40 rs772933494 0.2539 None gnomAD-2.1.1 4.02E-06
33126 26 G/E 40 rs772933494 0.2539 None gnomAD-4.0.0 1.36855E-06
33127 27 R/K 41 rs1205888266 0.8958 None gnomAD-2.1.1 4.02E-06
33127 27 R/K 41 rs1205888266 0.8958 None gnomAD-4.0.0 1.59159E-06
33127 27 R/S 41 rs747615650 0.8958 None gnomAD-2.1.1 8.05E-06
33127 27 R/S 41 rs747615650 0.8958 None gnomAD-3.1.2 6.57E-06
33127 27 R/S 41 rs747615650 0.8958 None gnomAD-4.0.0 3.0988E-06
33128 28 P/H 42 rs1457575286 0.4672 None gnomAD-3.1.2 6.57E-06
33128 28 P/H 42 rs1457575286 0.4672 None gnomAD-4.0.0 6.5735E-06
33128 28 P/L 42 None 0.4672 None gnomAD-4.0.0 1.20032E-06
33130 30 P/S 44 rs1692281859 0.1785 None gnomAD-4.0.0 1.59158E-06
33132 32 I/L 46 rs780831102 0.2246 None gnomAD-2.1.1 4.02E-06
33132 32 I/L 46 rs780831102 0.2246 None gnomAD-4.0.0 5.47402E-06
33133 33 K/T 47 rs794729552 0.3044 None gnomAD-4.0.0 1.59145E-06
33134 34 W/C 48 rs1222519078 0.1413 None gnomAD-2.1.1 4.02E-06
33134 34 W/C 48 rs1222519078 0.1413 None gnomAD-4.0.0 6.84244E-07
33134 34 W/R 48 None 0.1413 None gnomAD-4.0.0 1.20032E-06
33134 34 W/S 48 None 0.1413 None gnomAD-4.0.0 1.59151E-06
33136 36 R/K 50 None 0.1332 None gnomAD-4.0.0 3.18288E-06
33136 36 R/G 50 rs746964527 0.1332 None gnomAD-2.1.1 2.01E-05
33136 36 R/G 50 rs746964527 0.1332 None gnomAD-3.1.2 6.57E-06
33136 36 R/G 50 rs746964527 0.1332 None gnomAD-4.0.0 6.19709E-06
33139 39 K/E 55 rs779723670 0.6442 None gnomAD-2.1.1 1.61E-05
33139 39 K/E 55 rs779723670 0.6442 None gnomAD-3.1.2 1.97E-05
33139 39 K/E 55 rs779723670 0.6442 None gnomAD-4.0.0 2.41682E-05
33140 40 E/Q 56 None 0.2831 None gnomAD-4.0.0 6.84232E-07
33140 40 E/K 56 None 0.2831 None gnomAD-4.0.0 6.84232E-07
33140 40 E/G 56 None 0.2831 None gnomAD-4.0.0 1.36846E-06
33141 41 L/F 58 rs886039134 0.1482 None gnomAD-4.0.0 1.20032E-06
33142 42 I/T 59 rs1338367198 0.8326 None gnomAD-4.0.0 1.59137E-06
33143 43 Q/R 70 None 0.3918 None gnomAD-4.0.0 1.59139E-06
33143 43 Q/K 70 rs1380008073 0.3918 None gnomAD-2.1.1 4.02E-06
33143 43 Q/K 70 rs1380008073 0.3918 None gnomAD-3.1.2 6.57E-06
33143 43 Q/K 70 rs1380008073 0.3918 None gnomAD-4.0.0 1.23948E-05
33143 43 Q/E 70 rs1380008073 0.3918 None gnomAD-3.1.2 6.57E-06
33143 43 Q/E 70 rs1380008073 0.3918 None gnomAD-4.0.0 4.33816E-06
33145 45 R/Q 111 rs371531675 0.9842 None 1000 genomes 1.99681E-04
33145 45 R/Q 111 rs371531675 0.9842 None gnomAD-2.1.1 4.28E-05
33145 45 R/Q 111 rs371531675 0.9842 None gnomAD-3.1.2 6.58E-05
33145 45 R/Q 111 rs371531675 0.9842 None gnomAD-4.0.0 4.58588E-05
33145 45 R/W 111 rs1338284042 0.9842 None gnomAD-2.1.1 4.02E-06
33145 45 R/W 111 rs1338284042 0.9842 None gnomAD-4.0.0 5.47384E-06
33148 48 K/N 122 None 0.4780 None gnomAD-4.0.0 1.59135E-06
33149 49 M/T 123 rs750670014 0.2462 None gnomAD-2.1.1 8.03E-06
33149 49 M/T 123 rs750670014 0.2462 None gnomAD-4.0.0 4.77404E-06
33150 50 S/P 125 rs779055111 0.5255 None gnomAD-2.1.1 4.02E-06
33150 50 S/P 125 rs779055111 0.5255 None gnomAD-3.1.2 6.57E-06
33150 50 S/P 125 rs779055111 0.5255 None gnomAD-4.0.0 6.57445E-06
33153 53 G/R 131 None 0.4097 None gnomAD-4.0.0 5.47378E-06
33154 54 R/C 134 rs143556947 0.5096 None 1000 genomes 5.99042E-04
33154 54 R/C 134 rs143556947 0.5096 None gnomAD-2.1.1 3.21E-05
33154 54 R/C 134 rs143556947 0.5096 None gnomAD-3.1.2 9.21E-05
33154 54 R/C 134 rs143556947 0.5096 None gnomAD-4.0.0 2.23089E-05
33154 54 R/G 134 rs143556947 0.5096 None gnomAD-2.1.1 4.01E-06
33154 54 R/G 134 rs143556947 0.5096 None gnomAD-4.0.0 4.10532E-06
33154 54 R/H 134 rs753958605 0.5096 None gnomAD-2.1.1 2.01E-05
33154 54 R/H 134 rs753958605 0.5096 None gnomAD-3.1.2 6.57E-06
33154 54 R/H 134 rs753958605 0.5096 None gnomAD-4.0.0 6.19728E-06
33155 55 T/A 135 rs1692258849 0.2422 None gnomAD-4.0.0 3.18264E-06
33155 55 T/I 135 rs1179270927 0.2422 None gnomAD-2.1.1 4.01E-06
33155 55 T/I 135 rs1179270927 0.2422 None gnomAD-4.0.0 2.05265E-06
33156 56 H/N 136 rs374666520 0.1816 None gnomAD-4.0.0 6.84226E-07
33156 56 H/R 136 rs1375140267 0.1816 None gnomAD-2.1.1 3.18E-05
33156 56 H/Y 136 rs374666520 0.1816 None gnomAD-2.1.1 2.01E-05
33156 56 H/Y 136 rs374666520 0.1816 None gnomAD-3.1.2 1.31E-05
33156 56 H/Y 136 rs374666520 0.1816 None gnomAD-4.0.0 4.0901E-05
33160 60 V/L 140 None 0.1025 None gnomAD-4.0.0 2.73691E-06
33160 60 V/I 140 rs794729553 0.1025 None gnomAD-4.0.0 2.73691E-06
33161 61 M/V 141 rs910034354 0.3450 None gnomAD-4.0.0 1.59133E-06
33161 61 M/T 141 None 0.3450 None gnomAD-4.0.0 1.20032E-06
33161 61 M/I 141 rs1190762492 0.3450 None gnomAD-3.1.2 6.57E-06
33161 61 M/I 141 rs1190762492 0.3450 None gnomAD-4.0.0 1.59134E-06
33162 62 T/I 143 None 0.1255 None gnomAD-4.0.0 6.84224E-07
33164 64 E/Q 145 rs753191182 0.5190 None gnomAD-2.1.1 1.07E-05
33164 64 E/Q 145 rs753191182 0.5190 None gnomAD-4.0.0 6.84223E-07
33166 66 E/G 148 None 0.3885 None gnomAD-4.0.0 1.59131E-06
33169 69 G/A 152 rs1692241113 0.2267 None gnomAD-3.1.2 6.57E-06
33169 69 G/A 152 rs1692241113 0.2267 None gnomAD-4.0.0 1.23941E-06
33171 71 Y/H 154 rs532644861 0.1226 None 1000 genomes 1.99681E-04
33171 71 Y/H 154 rs532644861 0.1226 None gnomAD-2.1.1 4.02E-06
33171 71 Y/H 154 rs532644861 0.1226 None gnomAD-3.1.2 6.57E-06
33171 71 Y/H 154 rs532644861 0.1226 None gnomAD-4.0.0 6.56607E-06
33172 72 T/S 155 None 0.1855 None gnomAD-4.0.0 6.84231E-07
33172 72 T/I 155 None 0.1855 None gnomAD-4.0.0 6.84231E-07
33173 73 C/S 156 rs773021609 0.0839 None gnomAD-2.1.1 4.02E-06
33173 73 C/S 156 rs773021609 0.0839 None gnomAD-3.1.2 5.26E-05
33173 73 C/S 156 rs773021609 0.0839 None gnomAD-4.0.0 1.92162E-05
33173 73 C/Y 156 rs761362832 0.0839 None gnomAD-2.1.1 5.22E-05
33173 73 C/Y 156 rs761362832 0.0839 None gnomAD-3.1.2 2.63E-05
33173 73 C/Y 156 rs761362832 0.0839 None gnomAD-4.0.0 2.72678E-05
33174 74 I/T 157 rs879116103 0.1976 None gnomAD-2.1.1 1.43E-05
33174 74 I/T 157 rs879116103 0.1976 None gnomAD-3.1.2 3.29E-05
33174 74 I/T 157 rs879116103 0.1976 None gnomAD-4.0.0 6.197E-06
33176 76 T/I 159 None 0.3118 None gnomAD-4.0.0 6.84222E-07
33177 77 N/H 161 None 0.1475 None gnomAD-4.0.0 1.59132E-06
33177 77 N/S 161 rs761530189 0.1475 None gnomAD-2.1.1 4.02E-06
33177 77 N/S 161 rs761530189 0.1475 None gnomAD-3.1.2 6.57E-06
33177 77 N/S 161 rs761530189 0.1475 None gnomAD-4.0.0 7.43634E-06
33178 78 E/K 162 rs371017136 0.9072 None gnomAD-2.1.1 7.13E-06
33178 78 E/K 162 rs371017136 0.9072 None gnomAD-3.1.2 1.97E-05
33178 78 E/K 162 rs371017136 0.9072 None gnomAD-4.0.0 1.97122E-05
33179 79 V/I 163 rs1452847129 0.8292 None gnomAD-2.1.1 4.02E-06
33179 79 V/G 163 rs576759867 0.8292 None gnomAD-4.0.0 6.84213E-07
33179 79 V/F 163 rs1452847129 0.8292 None gnomAD-3.1.2 6.57E-06
33179 79 V/F 163 rs1452847129 0.8292 None gnomAD-4.0.0 6.57177E-06
33179 79 V/D 163 None 0.8292 None gnomAD-2.1.1 2.81E-05
33179 79 V/D 163 None 0.8292 None gnomAD-3.1.2 6.57E-06
33179 79 V/D 163 None 0.8292 None gnomAD-4.0.0 4.95777E-06
33179 79 V/A 163 rs576759867 0.8292 None gnomAD-2.1.1 6.06E-05
33179 79 V/A 163 rs576759867 0.8292 None gnomAD-3.1.2 1.97E-05
33179 79 V/A 163 rs576759867 0.8292 None gnomAD-4.0.0 2.97466E-05
33180 80 G/R 164 None 0.2835 None gnomAD-4.0.0 2.40064E-06
33182 82 V/I 166 rs1060500530 0.2465 None gnomAD-2.1.1 3.19E-05
33182 82 V/I 166 rs1060500530 0.2465 None gnomAD-3.1.2 6.57E-06
33182 82 V/I 166 rs1060500530 0.2465 None gnomAD-4.0.0 2.47879E-06
33183 83 E/D 168 None 0.6374 None gnomAD-4.0.0 1.59128E-06
33185 85 S/N 171 rs1377798768 0.3372 None gnomAD-3.1.2 6.57E-06
33185 85 S/N 171 rs1377798768 0.3372 None gnomAD-4.0.0 3.71827E-06
33185 85 S/R 171 None 0.3372 None gnomAD-4.0.0 1.59134E-06
33186 86 S/G 172 rs1198186808 0.1214 None gnomAD-2.1.1 3.19E-05
33186 86 S/G 172 rs1198186808 0.1214 None gnomAD-3.1.2 6.57E-06
33186 86 S/G 172 rs1198186808 0.1214 None gnomAD-4.0.0 6.57108E-06
33186 86 S/N 172 None 0.1214 None gnomAD-4.0.0 1.59137E-06
33187 87 K/R 173 rs560306385 0.5622 None gnomAD-2.1.1 4.02E-06
33187 87 K/R 173 rs560306385 0.5622 None gnomAD-4.0.0 6.84231E-07
33187 87 K/T 173 rs560306385 0.5622 None 1000 genomes 1.99681E-04
33187 87 K/T 173 rs560306385 0.5622 None gnomAD-2.1.1 4.28E-05
33187 87 K/T 173 rs560306385 0.5622 None gnomAD-3.1.2 1.97187E-04
33187 87 K/T 173 rs560306385 0.5622 None gnomAD-4.0.0 3.40821E-05