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 A T P Q F H P G Y P L K E K Y Y G A V G S T L R L H V M Y I G R P V P A M T W F H G Q K L L Q N S E N I T I E N T E H Y T H L V M K N V Q R K T H A G K Y K V Q L S N V F G T V D A I L D V E I 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 0.5171 None gnomAD-4.0.0 1.60306E-06
33102 2 G/E 2 rs751364205 0.3079 None gnomAD-2.1.1 4.11E-06
33102 2 G/E 2 rs751364205 0.3079 None gnomAD-3.1.2 6.57E-06
33102 2 G/E 2 rs751364205 0.3079 None gnomAD-4.0.0 5.59203E-06
33102 2 G/R 2 rs548615687 0.3079 None 1000 genomes 1.99681E-04
33102 2 G/R 2 rs548615687 0.3079 None gnomAD-2.1.1 3.18E-05
33102 2 G/R 2 rs548615687 0.3079 None gnomAD-3.1.2 6.57E-06
33102 2 G/R 2 rs548615687 0.3079 None gnomAD-4.0.0 2.48548E-06
33103 3 I/K 3 rs1251000688 0.2734 None gnomAD-2.1.1 4.09E-06
33103 3 I/K 3 rs1251000688 0.2734 None gnomAD-3.1.2 1.97E-05
33103 3 I/K 3 rs1251000688 0.2734 None gnomAD-4.0.0 1.97153E-05
33103 3 I/L 3 rs1490474972 0.2734 None gnomAD-2.1.1 4.09E-06
33104 4 R/C 4 rs766169253 0.6175 None gnomAD-2.1.1 2.86E-05
33104 4 R/C 4 rs766169253 0.6175 None gnomAD-3.1.2 3.29E-05
33104 4 R/C 4 rs766169253 0.6175 None gnomAD-4.0.0 4.40852E-05
33104 4 R/H 4 rs758617553 0.6175 None gnomAD-2.1.1 1.09E-05
33104 4 R/H 4 rs758617553 0.6175 None gnomAD-3.1.2 6.57E-06
33104 4 R/H 4 rs758617553 0.6175 None gnomAD-4.0.0 6.82943E-06
33104 4 R/L 4 rs758617553 0.6175 None gnomAD-3.1.2 6.57E-06
33104 4 R/L 4 rs758617553 0.6175 None gnomAD-4.0.0 6.57471E-06
33105 5 K/I 5 rs1196579817 0.2918 None gnomAD-2.1.1 4.07E-06
33105 5 K/I 5 rs1196579817 0.2918 None gnomAD-3.1.2 6.57E-06
33105 5 K/I 5 rs1196579817 0.2918 None gnomAD-4.0.0 2.56885E-06
33106 6 E/K 7 None 0.7617 None gnomAD-4.0.0 6.85091E-07
33107 7 M/V 8 None 0.1719 None gnomAD-4.0.0 2.73991E-06
33107 7 M/T 8 rs942438397 0.1719 None gnomAD-3.1.2 1.31E-05
33107 7 M/T 8 rs942438397 0.1719 None gnomAD-4.0.0 5.07487E-06
33107 7 M/I 8 None 0.1719 None gnomAD-4.0.0 1.20032E-06
33108 8 K/N 9 rs1281729370 0.8007 None gnomAD-2.1.1 4.05E-06
33108 8 K/N 9 rs1281729370 0.8007 None gnomAD-4.0.0 1.59466E-06
33109 9 D/G 11 rs1481058510 0.4536 None gnomAD-2.1.1 3.18E-05
33109 9 D/G 11 rs1481058510 0.4536 None gnomAD-3.1.2 6.57E-06
33109 9 D/G 11 rs1481058510 0.4536 None gnomAD-4.0.0 6.57047E-06
33109 9 D/N 11 None 0.4536 None gnomAD-4.0.0 1.20032E-06
33110 10 V/I 13 rs765303215 0.2016 None gnomAD-2.1.1 4.04E-06
33110 10 V/I 13 rs765303215 0.2016 None gnomAD-4.0.0 1.59338E-06
33112 12 T/K 16 rs374883160 0.1140 None gnomAD-2.1.1 3.23E-05
33112 12 T/K 16 rs374883160 0.1140 None gnomAD-3.1.2 3.94E-05
33112 12 T/K 16 rs374883160 0.1140 None gnomAD-4.0.0 4.02945E-05
33112 12 T/A 16 rs761837150 0.1140 None gnomAD-2.1.1 4.04E-06
33112 12 T/A 16 rs761837150 0.1140 None gnomAD-4.0.0 1.5927E-06
33113 13 K/E 18 None 0.4814 None gnomAD-4.0.0 1.20032E-06
33114 14 L/F 23 rs1203503394 0.2434 None gnomAD-2.1.1 3.18E-05
33114 14 L/F 23 rs1203503394 0.2434 None gnomAD-3.1.2 1.31E-05
33114 14 L/F 23 rs1203503394 0.2434 None gnomAD-4.0.0 3.84546E-06
33115 15 G/D 24 rs879247634 0.1782 None gnomAD-2.1.1 7.16E-06
33115 15 G/D 24 rs879247634 0.1782 None gnomAD-3.1.2 2.63E-05
33115 15 G/D 24 rs879247634 0.1782 None gnomAD-4.0.0 7.69039E-06
33117 17 A/T 26 None 0.3295 None gnomAD-4.0.0 1.59213E-06
33117 17 A/S 26 rs878926959 0.3295 None gnomAD-2.1.1 4.03E-06
33117 17 A/S 26 rs878926959 0.3295 None gnomAD-4.0.0 1.59213E-06
33117 17 A/P 26 rs878926959 0.3295 None gnomAD-3.1.2 6.57E-06
33117 17 A/P 26 rs878926959 0.3295 None gnomAD-4.0.0 6.57134E-06
33118 18 A/T 28 None 0.0974 None gnomAD-4.0.0 1.59217E-06
33118 18 A/S 28 rs1403450047 0.0974 None gnomAD-2.1.1 4.03E-06
33119 19 Q/R 29 rs775783429 0.4470 None gnomAD-2.1.1 2.42E-05
33119 19 Q/R 29 rs775783429 0.4470 None gnomAD-4.0.0 2.06933E-05
33120 20 L/F 30 rs772473414 0.2392 None gnomAD-2.1.1 2.14E-05
33120 20 L/F 30 rs772473414 0.2392 None gnomAD-3.1.2 3.29E-05
33120 20 L/F 30 rs772473414 0.2392 None gnomAD-4.0.0 1.1156E-05
33122 22 C/F 33 rs1692294550 0.0836 None gnomAD-4.0.0 4.77517E-06
33122 22 C/R 33 None 0.0836 None gnomAD-4.0.0 1.20032E-06
33124 24 I/T 35 rs1460988809 0.1231 None gnomAD-2.1.1 4.02E-06
33124 24 I/T 35 rs1460988809 0.1231 None gnomAD-4.0.0 2.73708E-06
33125 25 V/L 38 rs1692289481 0.3299 None gnomAD-4.0.0 3.18323E-06
33126 26 G/E 40 rs772933494 0.2028 None gnomAD-2.1.1 4.02E-06
33126 26 G/E 40 rs772933494 0.2028 None gnomAD-4.0.0 1.36855E-06
33127 27 R/K 41 rs1205888266 0.9599 None gnomAD-2.1.1 4.02E-06
33127 27 R/K 41 rs1205888266 0.9599 None gnomAD-4.0.0 1.59159E-06
33127 27 R/S 41 rs747615650 0.9599 None gnomAD-2.1.1 8.05E-06
33127 27 R/S 41 rs747615650 0.9599 None gnomAD-3.1.2 6.57E-06
33127 27 R/S 41 rs747615650 0.9599 None gnomAD-4.0.0 3.0988E-06
33128 28 P/H 42 rs1457575286 0.4637 None gnomAD-3.1.2 6.57E-06
33128 28 P/H 42 rs1457575286 0.4637 None gnomAD-4.0.0 6.5735E-06
33128 28 P/L 42 None 0.4637 None gnomAD-4.0.0 1.20032E-06
33130 30 P/S 44 rs1692281859 0.1823 None gnomAD-4.0.0 1.59158E-06
33132 32 I/L 46 rs780831102 0.1669 None gnomAD-2.1.1 4.02E-06
33132 32 I/L 46 rs780831102 0.1669 None gnomAD-4.0.0 5.47402E-06
33133 33 K/T 47 rs794729552 0.2908 None gnomAD-4.0.0 1.59145E-06
33134 34 W/C 48 rs1222519078 0.4243 None gnomAD-2.1.1 4.02E-06
33134 34 W/C 48 rs1222519078 0.4243 None gnomAD-4.0.0 6.84244E-07
33134 34 W/R 48 None 0.4243 None gnomAD-4.0.0 1.20032E-06
33134 34 W/S 48 None 0.4243 None gnomAD-4.0.0 1.59151E-06
33136 36 R/K 50 None 0.4087 None gnomAD-4.0.0 3.18288E-06
33136 36 R/G 50 rs746964527 0.4087 None gnomAD-2.1.1 2.01E-05
33136 36 R/G 50 rs746964527 0.4087 None gnomAD-3.1.2 6.57E-06
33136 36 R/G 50 rs746964527 0.4087 None gnomAD-4.0.0 6.19709E-06
33139 39 K/E 55 rs779723670 0.7975 None gnomAD-2.1.1 1.61E-05
33139 39 K/E 55 rs779723670 0.7975 None gnomAD-3.1.2 1.97E-05
33139 39 K/E 55 rs779723670 0.7975 None gnomAD-4.0.0 2.41682E-05
33140 40 E/Q 56 None 0.2364 None gnomAD-4.0.0 6.84232E-07
33140 40 E/K 56 None 0.2364 None gnomAD-4.0.0 6.84232E-07
33140 40 E/G 56 None 0.2364 None gnomAD-4.0.0 1.36846E-06
33141 41 L/F 58 rs886039134 0.5225 None gnomAD-4.0.0 1.20032E-06
33142 42 I/T 59 rs1338367198 1.0302 None gnomAD-4.0.0 1.59137E-06
33143 43 Q/R 70 None 0.3899 None gnomAD-4.0.0 1.59139E-06
33143 43 Q/K 70 rs1380008073 0.3899 None gnomAD-2.1.1 4.02E-06
33143 43 Q/K 70 rs1380008073 0.3899 None gnomAD-3.1.2 6.57E-06
33143 43 Q/K 70 rs1380008073 0.3899 None gnomAD-4.0.0 1.23948E-05
33143 43 Q/E 70 rs1380008073 0.3899 None gnomAD-3.1.2 6.57E-06
33143 43 Q/E 70 rs1380008073 0.3899 None gnomAD-4.0.0 4.33816E-06
33145 45 R/Q 111 rs371531675 1.0198 None 1000 genomes 1.99681E-04
33145 45 R/Q 111 rs371531675 1.0198 None gnomAD-2.1.1 4.28E-05
33145 45 R/Q 111 rs371531675 1.0198 None gnomAD-3.1.2 6.58E-05
33145 45 R/Q 111 rs371531675 1.0198 None gnomAD-4.0.0 4.58588E-05
33145 45 R/W 111 rs1338284042 1.0198 None gnomAD-2.1.1 4.02E-06
33145 45 R/W 111 rs1338284042 1.0198 None gnomAD-4.0.0 5.47384E-06
33148 48 K/N 122 None 0.8826 None gnomAD-4.0.0 1.59135E-06
33149 49 M/T 123 rs750670014 0.6450 None gnomAD-2.1.1 8.03E-06
33149 49 M/T 123 rs750670014 0.6450 None gnomAD-4.0.0 4.77404E-06
33150 50 S/P 125 rs779055111 0.3442 None gnomAD-2.1.1 4.02E-06
33150 50 S/P 125 rs779055111 0.3442 None gnomAD-3.1.2 6.57E-06
33150 50 S/P 125 rs779055111 0.3442 None gnomAD-4.0.0 6.57445E-06
33153 53 G/R 131 None 0.4481 None gnomAD-4.0.0 5.47378E-06
33154 54 R/C 134 rs143556947 0.5459 None 1000 genomes 5.99042E-04
33154 54 R/C 134 rs143556947 0.5459 None gnomAD-2.1.1 3.21E-05
33154 54 R/C 134 rs143556947 0.5459 None gnomAD-3.1.2 9.21E-05
33154 54 R/C 134 rs143556947 0.5459 None gnomAD-4.0.0 2.23089E-05
33154 54 R/G 134 rs143556947 0.5459 None gnomAD-2.1.1 4.01E-06
33154 54 R/G 134 rs143556947 0.5459 None gnomAD-4.0.0 4.10532E-06
33154 54 R/H 134 rs753958605 0.5459 None gnomAD-2.1.1 2.01E-05
33154 54 R/H 134 rs753958605 0.5459 None gnomAD-3.1.2 6.57E-06
33154 54 R/H 134 rs753958605 0.5459 None gnomAD-4.0.0 6.19728E-06
33155 55 T/A 135 rs1692258849 0.1985 None gnomAD-4.0.0 3.18264E-06
33155 55 T/I 135 rs1179270927 0.1985 None gnomAD-2.1.1 4.01E-06
33155 55 T/I 135 rs1179270927 0.1985 None gnomAD-4.0.0 2.05265E-06
33156 56 H/N 136 rs374666520 0.1258 None gnomAD-4.0.0 6.84226E-07
33156 56 H/R 136 rs1375140267 0.1258 None gnomAD-2.1.1 3.18E-05
33156 56 H/Y 136 rs374666520 0.1258 None gnomAD-2.1.1 2.01E-05
33156 56 H/Y 136 rs374666520 0.1258 None gnomAD-3.1.2 1.31E-05
33156 56 H/Y 136 rs374666520 0.1258 None gnomAD-4.0.0 4.0901E-05
33160 60 V/L 140 None 0.1672 None gnomAD-4.0.0 2.73691E-06
33160 60 V/I 140 rs794729553 0.1672 None gnomAD-4.0.0 2.73691E-06
33161 61 M/V 141 rs910034354 0.6421 None gnomAD-4.0.0 1.59133E-06
33161 61 M/T 141 None 0.6421 None gnomAD-4.0.0 1.20032E-06
33161 61 M/I 141 rs1190762492 0.6421 None gnomAD-3.1.2 6.57E-06
33161 61 M/I 141 rs1190762492 0.6421 None gnomAD-4.0.0 1.59134E-06
33162 62 T/I 143 None 0.0785 None gnomAD-4.0.0 6.84224E-07
33164 64 E/Q 145 rs753191182 0.6253 None gnomAD-2.1.1 1.07E-05
33164 64 E/Q 145 rs753191182 0.6253 None gnomAD-4.0.0 6.84223E-07
33166 66 E/G 148 None 0.5580 None gnomAD-4.0.0 1.59131E-06
33169 69 G/A 152 rs1692241113 0.2426 None gnomAD-3.1.2 6.57E-06
33169 69 G/A 152 rs1692241113 0.2426 None gnomAD-4.0.0 1.23941E-06
33171 71 Y/H 154 rs532644861 0.2587 None 1000 genomes 1.99681E-04
33171 71 Y/H 154 rs532644861 0.2587 None gnomAD-2.1.1 4.02E-06
33171 71 Y/H 154 rs532644861 0.2587 None gnomAD-3.1.2 6.57E-06
33171 71 Y/H 154 rs532644861 0.2587 None gnomAD-4.0.0 6.56607E-06
33172 72 T/S 155 None 0.3802 None gnomAD-4.0.0 6.84231E-07
33172 72 T/I 155 None 0.3802 None gnomAD-4.0.0 6.84231E-07
33173 73 C/S 156 rs773021609 0.1086 None gnomAD-2.1.1 4.02E-06
33173 73 C/S 156 rs773021609 0.1086 None gnomAD-3.1.2 5.26E-05
33173 73 C/S 156 rs773021609 0.1086 None gnomAD-4.0.0 1.92162E-05
33173 73 C/Y 156 rs761362832 0.1086 None gnomAD-2.1.1 5.22E-05
33173 73 C/Y 156 rs761362832 0.1086 None gnomAD-3.1.2 2.63E-05
33173 73 C/Y 156 rs761362832 0.1086 None gnomAD-4.0.0 2.72678E-05
33174 74 I/T 157 rs879116103 0.2267 None gnomAD-2.1.1 1.43E-05
33174 74 I/T 157 rs879116103 0.2267 None gnomAD-3.1.2 3.29E-05
33174 74 I/T 157 rs879116103 0.2267 None gnomAD-4.0.0 6.197E-06
33176 76 T/I 159 None 0.2876 None gnomAD-4.0.0 6.84222E-07
33177 77 N/H 161 None 0.1616 None gnomAD-4.0.0 1.59132E-06
33177 77 N/S 161 rs761530189 0.1616 None gnomAD-2.1.1 4.02E-06
33177 77 N/S 161 rs761530189 0.1616 None gnomAD-3.1.2 6.57E-06
33177 77 N/S 161 rs761530189 0.1616 None gnomAD-4.0.0 7.43634E-06
33178 78 E/K 162 rs371017136 0.8374 None gnomAD-2.1.1 7.13E-06
33178 78 E/K 162 rs371017136 0.8374 None gnomAD-3.1.2 1.97E-05
33178 78 E/K 162 rs371017136 0.8374 None gnomAD-4.0.0 1.97122E-05
33179 79 V/I 163 rs1452847129 0.8155 None gnomAD-2.1.1 4.02E-06
33179 79 V/G 163 rs576759867 0.8155 None gnomAD-4.0.0 6.84213E-07
33179 79 V/F 163 rs1452847129 0.8155 None gnomAD-3.1.2 6.57E-06
33179 79 V/F 163 rs1452847129 0.8155 None gnomAD-4.0.0 6.57177E-06
33179 79 V/D 163 None 0.8155 None gnomAD-2.1.1 2.81E-05
33179 79 V/D 163 None 0.8155 None gnomAD-3.1.2 6.57E-06
33179 79 V/D 163 None 0.8155 None gnomAD-4.0.0 4.95777E-06
33179 79 V/A 163 rs576759867 0.8155 None gnomAD-2.1.1 6.06E-05
33179 79 V/A 163 rs576759867 0.8155 None gnomAD-3.1.2 1.97E-05
33179 79 V/A 163 rs576759867 0.8155 None gnomAD-4.0.0 2.97466E-05
33180 80 G/R 164 None 0.3016 None gnomAD-4.0.0 2.40064E-06
33182 82 V/I 166 rs1060500530 0.3070 None gnomAD-2.1.1 3.19E-05
33182 82 V/I 166 rs1060500530 0.3070 None gnomAD-3.1.2 6.57E-06
33182 82 V/I 166 rs1060500530 0.3070 None gnomAD-4.0.0 2.47879E-06
33183 83 E/D 168 None 0.6488 None gnomAD-4.0.0 1.59128E-06
33185 85 S/N 171 rs1377798768 0.3369 None gnomAD-3.1.2 6.57E-06
33185 85 S/N 171 rs1377798768 0.3369 None gnomAD-4.0.0 3.71827E-06
33185 85 S/R 171 None 0.3369 None gnomAD-4.0.0 1.59134E-06
33186 86 S/G 172 rs1198186808 0.1326 None gnomAD-2.1.1 3.19E-05
33186 86 S/G 172 rs1198186808 0.1326 None gnomAD-3.1.2 6.57E-06
33186 86 S/G 172 rs1198186808 0.1326 None gnomAD-4.0.0 6.57108E-06
33186 86 S/N 172 None 0.1326 None gnomAD-4.0.0 1.59137E-06
33187 87 K/R 173 rs560306385 0.4798 None gnomAD-2.1.1 4.02E-06
33187 87 K/R 173 rs560306385 0.4798 None gnomAD-4.0.0 6.84231E-07
33187 87 K/T 173 rs560306385 0.4798 None 1000 genomes 1.99681E-04
33187 87 K/T 173 rs560306385 0.4798 None gnomAD-2.1.1 4.28E-05
33187 87 K/T 173 rs560306385 0.4798 None gnomAD-3.1.2 1.97187E-04
33187 87 K/T 173 rs560306385 0.4798 None gnomAD-4.0.0 3.40821E-05