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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
A M S G E A 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 D K
- - - - - - 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 0.1249 None gnomAD-4.0.0 1.60306E-06
33102 2 G/E 2 rs751364205 0.1991 None gnomAD-2.1.1 4.11E-06
33102 2 G/E 2 rs751364205 0.1991 None gnomAD-3.1.2 6.57E-06
33102 2 G/E 2 rs751364205 0.1991 None gnomAD-4.0.0 5.59203E-06
33102 2 G/R 2 rs548615687 0.1991 None 1000 genomes 1.99681E-04
33102 2 G/R 2 rs548615687 0.1991 None gnomAD-2.1.1 3.18E-05
33102 2 G/R 2 rs548615687 0.1991 None gnomAD-3.1.2 6.57E-06
33102 2 G/R 2 rs548615687 0.1991 None gnomAD-4.0.0 2.48548E-06
33103 3 I/K 3 rs1251000688 0.2665 None gnomAD-2.1.1 4.09E-06
33103 3 I/K 3 rs1251000688 0.2665 None gnomAD-3.1.2 1.97E-05
33103 3 I/K 3 rs1251000688 0.2665 None gnomAD-4.0.0 1.97153E-05
33103 3 I/L 3 rs1490474972 0.2665 None gnomAD-2.1.1 4.09E-06
33104 4 R/C 4 rs766169253 0.5455 None gnomAD-2.1.1 2.86E-05
33104 4 R/C 4 rs766169253 0.5455 None gnomAD-3.1.2 3.29E-05
33104 4 R/C 4 rs766169253 0.5455 None gnomAD-4.0.0 4.40852E-05
33104 4 R/H 4 rs758617553 0.5455 None gnomAD-2.1.1 1.09E-05
33104 4 R/H 4 rs758617553 0.5455 None gnomAD-3.1.2 6.57E-06
33104 4 R/H 4 rs758617553 0.5455 None gnomAD-4.0.0 6.82943E-06
33104 4 R/L 4 rs758617553 0.5455 None gnomAD-3.1.2 6.57E-06
33104 4 R/L 4 rs758617553 0.5455 None gnomAD-4.0.0 6.57471E-06
33105 5 K/I 5 rs1196579817 0.1690 None gnomAD-2.1.1 4.07E-06
33105 5 K/I 5 rs1196579817 0.1690 None gnomAD-3.1.2 6.57E-06
33105 5 K/I 5 rs1196579817 0.1690 None gnomAD-4.0.0 2.56885E-06
33106 6 E/K 7 None 0.3591 None gnomAD-4.0.0 6.85091E-07
33107 7 M/V 8 None 0.0772 None gnomAD-4.0.0 2.73991E-06
33107 7 M/T 8 rs942438397 0.0772 None gnomAD-3.1.2 1.31E-05
33107 7 M/T 8 rs942438397 0.0772 None gnomAD-4.0.0 5.07487E-06
33107 7 M/I 8 None 0.0772 None gnomAD-4.0.0 1.20032E-06
33108 8 K/N 9 rs1281729370 0.3449 None gnomAD-2.1.1 4.05E-06
33108 8 K/N 9 rs1281729370 0.3449 None gnomAD-4.0.0 1.59466E-06
33109 9 D/G 11 rs1481058510 0.2314 None gnomAD-2.1.1 3.18E-05
33109 9 D/G 11 rs1481058510 0.2314 None gnomAD-3.1.2 6.57E-06
33109 9 D/G 11 rs1481058510 0.2314 None gnomAD-4.0.0 6.57047E-06
33109 9 D/N 11 None 0.2314 None gnomAD-4.0.0 1.20032E-06
33110 10 V/I 13 rs765303215 0.2078 None gnomAD-2.1.1 4.04E-06
33110 10 V/I 13 rs765303215 0.2078 None gnomAD-4.0.0 1.59338E-06
33112 12 T/K 16 rs374883160 0.1593 None gnomAD-2.1.1 3.23E-05
33112 12 T/K 16 rs374883160 0.1593 None gnomAD-3.1.2 3.94E-05
33112 12 T/K 16 rs374883160 0.1593 None gnomAD-4.0.0 4.02945E-05
33112 12 T/A 16 rs761837150 0.1593 None gnomAD-2.1.1 4.04E-06
33112 12 T/A 16 rs761837150 0.1593 None gnomAD-4.0.0 1.5927E-06
33113 13 K/E 18 None 0.5119 None gnomAD-4.0.0 1.20032E-06
33114 14 L/F 23 rs1203503394 0.2122 None gnomAD-2.1.1 3.18E-05
33114 14 L/F 23 rs1203503394 0.2122 None gnomAD-3.1.2 1.31E-05
33114 14 L/F 23 rs1203503394 0.2122 None gnomAD-4.0.0 3.84546E-06
33115 15 G/D 24 rs879247634 0.2941 None gnomAD-2.1.1 7.16E-06
33115 15 G/D 24 rs879247634 0.2941 None gnomAD-3.1.2 2.63E-05
33115 15 G/D 24 rs879247634 0.2941 None gnomAD-4.0.0 7.69039E-06
33117 17 A/T 26 None 0.3316 None gnomAD-4.0.0 1.59213E-06
33117 17 A/S 26 rs878926959 0.3316 None gnomAD-2.1.1 4.03E-06
33117 17 A/S 26 rs878926959 0.3316 None gnomAD-4.0.0 1.59213E-06
33117 17 A/P 26 rs878926959 0.3316 None gnomAD-3.1.2 6.57E-06
33117 17 A/P 26 rs878926959 0.3316 None gnomAD-4.0.0 6.57134E-06
33118 18 A/T 28 None 0.1378 None gnomAD-4.0.0 1.59217E-06
33118 18 A/S 28 rs1403450047 0.1378 None gnomAD-2.1.1 4.03E-06
33119 19 Q/R 29 rs775783429 0.6732 None gnomAD-2.1.1 2.42E-05
33119 19 Q/R 29 rs775783429 0.6732 None gnomAD-4.0.0 2.06933E-05
33120 20 L/F 30 rs772473414 0.1065 None gnomAD-2.1.1 2.14E-05
33120 20 L/F 30 rs772473414 0.1065 None gnomAD-3.1.2 3.29E-05
33120 20 L/F 30 rs772473414 0.1065 None gnomAD-4.0.0 1.1156E-05
33122 22 C/F 33 rs1692294550 0.0859 None gnomAD-4.0.0 4.77517E-06
33122 22 C/R 33 None 0.0859 None gnomAD-4.0.0 1.20032E-06
33124 24 I/T 35 rs1460988809 0.0942 None gnomAD-2.1.1 4.02E-06
33124 24 I/T 35 rs1460988809 0.0942 None gnomAD-4.0.0 2.73708E-06
33125 25 V/L 38 rs1692289481 0.2676 None gnomAD-4.0.0 3.18323E-06
33126 26 G/E 40 rs772933494 0.1290 None gnomAD-2.1.1 4.02E-06
33126 26 G/E 40 rs772933494 0.1290 None gnomAD-4.0.0 1.36855E-06
33127 27 R/K 41 rs1205888266 0.5986 None gnomAD-2.1.1 4.02E-06
33127 27 R/K 41 rs1205888266 0.5986 None gnomAD-4.0.0 1.59159E-06
33127 27 R/S 41 rs747615650 0.5986 None gnomAD-2.1.1 8.05E-06
33127 27 R/S 41 rs747615650 0.5986 None gnomAD-3.1.2 6.57E-06
33127 27 R/S 41 rs747615650 0.5986 None gnomAD-4.0.0 3.0988E-06
33128 28 P/H 42 rs1457575286 0.3344 None gnomAD-3.1.2 6.57E-06
33128 28 P/H 42 rs1457575286 0.3344 None gnomAD-4.0.0 6.5735E-06
33128 28 P/L 42 None 0.3344 None gnomAD-4.0.0 1.20032E-06
33130 30 P/S 44 rs1692281859 0.1570 None gnomAD-4.0.0 1.59158E-06
33132 32 I/L 46 rs780831102 0.1815 None gnomAD-2.1.1 4.02E-06
33132 32 I/L 46 rs780831102 0.1815 None gnomAD-4.0.0 5.47402E-06
33133 33 K/T 47 rs794729552 0.3977 None gnomAD-4.0.0 1.59145E-06
33134 34 W/C 48 rs1222519078 0.1212 None gnomAD-2.1.1 4.02E-06
33134 34 W/C 48 rs1222519078 0.1212 None gnomAD-4.0.0 6.84244E-07
33134 34 W/R 48 None 0.1212 None gnomAD-4.0.0 1.20032E-06
33134 34 W/S 48 None 0.1212 None gnomAD-4.0.0 1.59151E-06
33136 36 R/K 50 None 0.0742 None gnomAD-4.0.0 3.18288E-06
33136 36 R/G 50 rs746964527 0.0742 None gnomAD-2.1.1 2.01E-05
33136 36 R/G 50 rs746964527 0.0742 None gnomAD-3.1.2 6.57E-06
33136 36 R/G 50 rs746964527 0.0742 None gnomAD-4.0.0 6.19709E-06
33139 39 K/E 55 rs779723670 0.6381 None gnomAD-2.1.1 1.61E-05
33139 39 K/E 55 rs779723670 0.6381 None gnomAD-3.1.2 1.97E-05
33139 39 K/E 55 rs779723670 0.6381 None gnomAD-4.0.0 2.41682E-05
33140 40 E/Q 56 None 0.3120 None gnomAD-4.0.0 6.84232E-07
33140 40 E/K 56 None 0.3120 None gnomAD-4.0.0 6.84232E-07
33140 40 E/G 56 None 0.3120 None gnomAD-4.0.0 1.36846E-06
33141 41 L/F 58 rs886039134 0.1445 None gnomAD-4.0.0 1.20032E-06
33142 42 I/T 59 rs1338367198 0.5810 None gnomAD-4.0.0 1.59137E-06
33143 43 Q/R 70 None 0.3779 None gnomAD-4.0.0 1.59139E-06
33143 43 Q/K 70 rs1380008073 0.3779 None gnomAD-2.1.1 4.02E-06
33143 43 Q/K 70 rs1380008073 0.3779 None gnomAD-3.1.2 6.57E-06
33143 43 Q/K 70 rs1380008073 0.3779 None gnomAD-4.0.0 1.23948E-05
33143 43 Q/E 70 rs1380008073 0.3779 None gnomAD-3.1.2 6.57E-06
33143 43 Q/E 70 rs1380008073 0.3779 None gnomAD-4.0.0 4.33816E-06
33145 45 R/Q 111 rs371531675 0.7630 None 1000 genomes 1.99681E-04
33145 45 R/Q 111 rs371531675 0.7630 None gnomAD-2.1.1 4.28E-05
33145 45 R/Q 111 rs371531675 0.7630 None gnomAD-3.1.2 6.58E-05
33145 45 R/Q 111 rs371531675 0.7630 None gnomAD-4.0.0 4.58588E-05
33145 45 R/W 111 rs1338284042 0.7630 None gnomAD-2.1.1 4.02E-06
33145 45 R/W 111 rs1338284042 0.7630 None gnomAD-4.0.0 5.47384E-06
33148 48 K/N 122 None 0.2837 None gnomAD-4.0.0 1.59135E-06
33149 49 M/T 123 rs750670014 0.1546 None gnomAD-2.1.1 8.03E-06
33149 49 M/T 123 rs750670014 0.1546 None gnomAD-4.0.0 4.77404E-06
33150 50 S/P 125 rs779055111 0.3853 None gnomAD-2.1.1 4.02E-06
33150 50 S/P 125 rs779055111 0.3853 None gnomAD-3.1.2 6.57E-06
33150 50 S/P 125 rs779055111 0.3853 None gnomAD-4.0.0 6.57445E-06
33153 53 G/R 131 None 0.2180 None gnomAD-4.0.0 5.47378E-06
33154 54 R/C 134 rs143556947 0.5036 None 1000 genomes 5.99042E-04
33154 54 R/C 134 rs143556947 0.5036 None gnomAD-2.1.1 3.21E-05
33154 54 R/C 134 rs143556947 0.5036 None gnomAD-3.1.2 9.21E-05
33154 54 R/C 134 rs143556947 0.5036 None gnomAD-4.0.0 2.23089E-05
33154 54 R/G 134 rs143556947 0.5036 None gnomAD-2.1.1 4.01E-06
33154 54 R/G 134 rs143556947 0.5036 None gnomAD-4.0.0 4.10532E-06
33154 54 R/H 134 rs753958605 0.5036 None gnomAD-2.1.1 2.01E-05
33154 54 R/H 134 rs753958605 0.5036 None gnomAD-3.1.2 6.57E-06
33154 54 R/H 134 rs753958605 0.5036 None gnomAD-4.0.0 6.19728E-06
33155 55 T/A 135 rs1692258849 0.2799 None gnomAD-4.0.0 3.18264E-06
33155 55 T/I 135 rs1179270927 0.2799 None gnomAD-2.1.1 4.01E-06
33155 55 T/I 135 rs1179270927 0.2799 None gnomAD-4.0.0 2.05265E-06
33156 56 H/N 136 rs374666520 0.0960 None gnomAD-4.0.0 6.84226E-07
33156 56 H/R 136 rs1375140267 0.0960 None gnomAD-2.1.1 3.18E-05
33156 56 H/Y 136 rs374666520 0.0960 None gnomAD-2.1.1 2.01E-05
33156 56 H/Y 136 rs374666520 0.0960 None gnomAD-3.1.2 1.31E-05
33156 56 H/Y 136 rs374666520 0.0960 None gnomAD-4.0.0 4.0901E-05
33160 60 V/L 140 None 0.0934 None gnomAD-4.0.0 2.73691E-06
33160 60 V/I 140 rs794729553 0.0934 None gnomAD-4.0.0 2.73691E-06
33161 61 M/V 141 rs910034354 0.2461 None gnomAD-4.0.0 1.59133E-06
33161 61 M/T 141 None 0.2461 None gnomAD-4.0.0 1.20032E-06
33161 61 M/I 141 rs1190762492 0.2461 None gnomAD-3.1.2 6.57E-06
33161 61 M/I 141 rs1190762492 0.2461 None gnomAD-4.0.0 1.59134E-06
33162 62 T/I 143 None 0.1281 None gnomAD-4.0.0 6.84224E-07
33164 64 E/Q 145 rs753191182 0.2275 None gnomAD-2.1.1 1.07E-05
33164 64 E/Q 145 rs753191182 0.2275 None gnomAD-4.0.0 6.84223E-07
33166 66 E/G 148 None 0.2573 None gnomAD-4.0.0 1.59131E-06
33169 69 G/A 152 rs1692241113 0.1585 None gnomAD-3.1.2 6.57E-06
33169 69 G/A 152 rs1692241113 0.1585 None gnomAD-4.0.0 1.23941E-06
33171 71 Y/H 154 rs532644861 0.1248 None 1000 genomes 1.99681E-04
33171 71 Y/H 154 rs532644861 0.1248 None gnomAD-2.1.1 4.02E-06
33171 71 Y/H 154 rs532644861 0.1248 None gnomAD-3.1.2 6.57E-06
33171 71 Y/H 154 rs532644861 0.1248 None gnomAD-4.0.0 6.56607E-06
33172 72 T/S 155 None 0.1564 None gnomAD-4.0.0 6.84231E-07
33172 72 T/I 155 None 0.1564 None gnomAD-4.0.0 6.84231E-07
33173 73 C/S 156 rs773021609 0.0844 None gnomAD-2.1.1 4.02E-06
33173 73 C/S 156 rs773021609 0.0844 None gnomAD-3.1.2 5.26E-05
33173 73 C/S 156 rs773021609 0.0844 None gnomAD-4.0.0 1.92162E-05
33173 73 C/Y 156 rs761362832 0.0844 None gnomAD-2.1.1 5.22E-05
33173 73 C/Y 156 rs761362832 0.0844 None gnomAD-3.1.2 2.63E-05
33173 73 C/Y 156 rs761362832 0.0844 None gnomAD-4.0.0 2.72678E-05
33174 74 I/T 157 rs879116103 0.1803 None gnomAD-2.1.1 1.43E-05
33174 74 I/T 157 rs879116103 0.1803 None gnomAD-3.1.2 3.29E-05
33174 74 I/T 157 rs879116103 0.1803 None gnomAD-4.0.0 6.197E-06
33176 76 T/I 159 None 0.2429 None gnomAD-4.0.0 6.84222E-07
33177 77 N/H 161 None 0.1002 None gnomAD-4.0.0 1.59132E-06
33177 77 N/S 161 rs761530189 0.1002 None gnomAD-2.1.1 4.02E-06
33177 77 N/S 161 rs761530189 0.1002 None gnomAD-3.1.2 6.57E-06
33177 77 N/S 161 rs761530189 0.1002 None gnomAD-4.0.0 7.43634E-06
33178 78 E/K 162 rs371017136 0.7004 None gnomAD-2.1.1 7.13E-06
33178 78 E/K 162 rs371017136 0.7004 None gnomAD-3.1.2 1.97E-05
33178 78 E/K 162 rs371017136 0.7004 None gnomAD-4.0.0 1.97122E-05
33179 79 V/I 163 rs1452847129 0.3273 None gnomAD-2.1.1 4.02E-06
33179 79 V/G 163 rs576759867 0.3273 None gnomAD-4.0.0 6.84213E-07
33179 79 V/F 163 rs1452847129 0.3273 None gnomAD-3.1.2 6.57E-06
33179 79 V/F 163 rs1452847129 0.3273 None gnomAD-4.0.0 6.57177E-06
33179 79 V/D 163 None 0.3273 None gnomAD-2.1.1 2.81E-05
33179 79 V/D 163 None 0.3273 None gnomAD-3.1.2 6.57E-06
33179 79 V/D 163 None 0.3273 None gnomAD-4.0.0 4.95777E-06
33179 79 V/A 163 rs576759867 0.3273 None gnomAD-2.1.1 6.06E-05
33179 79 V/A 163 rs576759867 0.3273 None gnomAD-3.1.2 1.97E-05
33179 79 V/A 163 rs576759867 0.3273 None gnomAD-4.0.0 2.97466E-05
33180 80 G/R 164 None 0.1681 None gnomAD-4.0.0 2.40064E-06
33182 82 V/I 166 rs1060500530 0.1385 None gnomAD-2.1.1 3.19E-05
33182 82 V/I 166 rs1060500530 0.1385 None gnomAD-3.1.2 6.57E-06
33182 82 V/I 166 rs1060500530 0.1385 None gnomAD-4.0.0 2.47879E-06
33183 83 E/D 168 None 0.2290 None gnomAD-4.0.0 1.59128E-06
33185 85 S/N 171 rs1377798768 0.1553 None gnomAD-3.1.2 6.57E-06
33185 85 S/N 171 rs1377798768 0.1553 None gnomAD-4.0.0 3.71827E-06
33185 85 S/R 171 None 0.1553 None gnomAD-4.0.0 1.59134E-06
33186 86 S/G 172 rs1198186808 0.1081 None gnomAD-2.1.1 3.19E-05
33186 86 S/G 172 rs1198186808 0.1081 None gnomAD-3.1.2 6.57E-06
33186 86 S/G 172 rs1198186808 0.1081 None gnomAD-4.0.0 6.57108E-06
33186 86 S/N 172 None 0.1081 None gnomAD-4.0.0 1.59137E-06
33187 87 K/R 173 rs560306385 0.1595 None gnomAD-2.1.1 4.02E-06
33187 87 K/R 173 rs560306385 0.1595 None gnomAD-4.0.0 6.84231E-07
33187 87 K/T 173 rs560306385 0.1595 None 1000 genomes 1.99681E-04
33187 87 K/T 173 rs560306385 0.1595 None gnomAD-2.1.1 4.28E-05
33187 87 K/T 173 rs560306385 0.1595 None gnomAD-3.1.2 1.97187E-04
33187 87 K/T 173 rs560306385 0.1595 None gnomAD-4.0.0 3.40821E-05