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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
L D V K L I E G L V V K A G T T V R F P A I I R G V P V P T A K W T T D G S E I K T D E H Y T V E T D N F S S V L T I K N C L R R D T G E Y Q I T V S N A A G S K T V A V H L T V L D V P G P P T G P I N I L D V T P E H M T I S W Q P P K D D G G S P V I N Y I V E K Q D T R K D T W G V V S S G S S K T K L K I P H L Q K G C E Y V F R V R A E N K I G V G P P L D S T P T V A K H K
L D V K L I E G L V V K A G T T V R F P A I I R G V P V P T A K W T T D G S E I K T D E H Y T V E T D N F S S V L T I K N C L R R D T G E Y Q I T V S N A A G S K T V A V H L T 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
20080 1 L/V 1 rs1559592788 0.4850 None gnomAD-2.1.1 4.44E-06
20080 1 L/V 1 rs1559592788 0.4850 None gnomAD-4.0.0 2.78783E-06
20081 2 D/G 2 rs369680191 0.4658 None gnomAD-2.1.1 2.22E-05
20081 2 D/G 2 rs369680191 0.4658 None gnomAD-4.0.0 9.05774E-06
20081 2 D/H 2 rs773444432 0.4658 None gnomAD-2.1.1 4.44E-06
20081 2 D/H 2 rs773444432 0.4658 None gnomAD-4.0.0 1.66195E-06
20082 3 V/E 3 None 0.6555 None gnomAD-4.0.0 6.97569E-07
20082 3 V/G 3 None 0.6555 None gnomAD-4.0.0 6.97572E-07
20085 6 I/N 8 None 0.4967 None gnomAD-4.0.0 6.96954E-07
20085 6 I/T 8 rs763870161 0.4967 None gnomAD-2.1.1 4.47E-06
20085 6 I/T 8 rs763870161 0.4967 None gnomAD-3.1.2 6.58E-06
20085 6 I/T 8 rs763870161 0.4967 None gnomAD-4.0.0 2.3316E-05
20085 6 I/V 8 rs794729466 0.4967 None gnomAD-2.1.1 4.46E-06
20085 6 I/V 8 rs794729466 0.4967 None gnomAD-4.0.0 1.6618E-06
20087 8 G/D 11 None 0.3409 None gnomAD-4.0.0 1.20032E-06
20087 8 G/S 11 rs761836336 0.3409 None gnomAD-2.1.1 4.46E-06
20087 8 G/V 11 None 0.3409 None gnomAD-4.0.0 3.60097E-06
20088 9 L/H 13 rs747560869 0.3298 None gnomAD-2.1.1 4.4E-06
20088 9 L/H 13 rs747560869 0.3298 None gnomAD-4.0.0 6.95384E-07
20088 9 L/P 13 rs747560869 0.3298 None gnomAD-3.1.2 6.58E-06
20088 9 L/P 13 rs747560869 0.3298 None gnomAD-4.0.0 2.51552E-06
20088 9 L/V 13 rs769097181 0.3298 None gnomAD-2.1.1 2.65E-05
20088 9 L/V 13 rs769097181 0.3298 None gnomAD-4.0.0 1.80914E-05
20089 10 V/A 14 rs886039085 0.4905 None gnomAD-2.1.1 1.76E-05
20089 10 V/A 14 rs886039085 0.4905 None gnomAD-3.1.2 6.58E-06
20089 10 V/A 14 rs886039085 0.4905 None gnomAD-4.0.0 2.32634E-05
20089 10 V/M 14 rs2050176457 0.4905 None gnomAD-4.0.0 1.65421E-06
20090 11 V/E 16 None 0.1859 None gnomAD-4.0.0 1.20032E-06
20091 12 K/N 18 rs775961664 0.4065 None gnomAD-2.1.1 4.29E-06
20091 12 K/N 18 rs775961664 0.4065 None gnomAD-4.0.0 1.38387E-06
20092 13 A/G 23 rs1276745153 0.2203 None gnomAD-2.1.1 4.26E-06
20092 13 A/G 23 rs1276745153 0.2203 None gnomAD-4.0.0 6.91419E-07
20092 13 A/T 23 None 0.2203 None gnomAD-4.0.0 1.63377E-06
20092 13 A/V 23 rs1276745153 0.2203 None gnomAD-3.1.2 6.58E-06
20092 13 A/V 23 rs1276745153 0.2203 None gnomAD-4.0.0 1.2513E-06
20093 14 G/R 24 rs1229011306 0.3169 None gnomAD-2.1.1 1.28E-05
20093 14 G/R 24 rs1229011306 0.3169 None gnomAD-4.0.0 4.89598E-06
20094 15 T/A 25 None 0.3256 None gnomAD-4.0.0 2.07046E-06
20094 15 T/S 25 rs772591561 0.3256 None gnomAD-2.1.1 2.23E-05
20094 15 T/S 25 rs772591561 0.3256 None gnomAD-3.1.2 6.58E-06
20094 15 T/S 25 rs772591561 0.3256 None gnomAD-4.0.0 5.62147E-06
20097 18 R/K 29 None 0.4938 None gnomAD-4.0.0 1.61338E-06
20098 19 F/S 30 None 0.1269 None gnomAD-4.0.0 2.75181E-06
20099 20 P/R 31 None 0.4722 None gnomAD-4.0.0 6.87377E-07
20100 21 A/T 33 rs748929812 0.1490 None gnomAD-2.1.1 3.31E-05
20100 21 A/T 33 rs748929812 0.1490 None gnomAD-4.0.0 1.85614E-05
20100 21 A/V 33 rs1388164549 0.1490 None gnomAD-2.1.1 4.14E-06
20100 21 A/V 33 rs1388164549 0.1490 None gnomAD-4.0.0 4.82417E-06
20101 22 I/T 34 rs777610858 0.7869 None gnomAD-2.1.1 1.1E-05
20101 22 I/T 34 rs777610858 0.7869 None gnomAD-3.1.2 1.32E-05
20101 22 I/T 34 rs777610858 0.7869 None gnomAD-4.0.0 1.92838E-05
20101 22 I/V 34 rs2050170948 0.7869 None gnomAD-4.0.0 6.87031E-07
20102 23 I/L 35 rs755647048 0.1502 None gnomAD-2.1.1 4.12E-06
20102 23 I/L 35 rs755647048 0.1502 None gnomAD-4.0.0 6.86685E-07
20102 23 I/M 35 None 0.1502 None gnomAD-4.0.0 1.60376E-06
20102 23 I/T 35 rs998020901 0.1502 None gnomAD-2.1.1 4.11E-06
20102 23 I/T 35 rs998020901 0.1502 None gnomAD-4.0.0 1.60437E-06
20102 23 I/V 35 rs755647048 0.1502 None gnomAD-2.1.1 4.12E-06
20102 23 I/V 35 rs755647048 0.1502 None gnomAD-4.0.0 5.49348E-06
20104 25 G/S 40 rs747671998 0.3379 None gnomAD-2.1.1 4.09E-06
20104 25 G/S 40 rs747671998 0.3379 None gnomAD-4.0.0 1.3727E-06
20105 26 V/G 41 rs727504490 0.8430 None gnomAD-2.1.1 2.16E-05
20105 26 V/G 41 rs727504490 0.8430 None gnomAD-3.1.2 2.63E-05
20105 26 V/G 41 rs727504490 0.8430 None gnomAD-4.0.0 2.54463E-05
20105 26 V/M 41 rs2050166133 0.8430 None gnomAD-4.0.0 3.42767E-06
20106 27 P/T 42 rs1576103220 0.5291 None gnomAD-4.0.0 6.85284E-07
20107 28 V/G 43 rs1250017638 0.5109 None gnomAD-2.1.1 4.05E-06
20107 28 V/G 43 rs1250017638 0.5109 None gnomAD-4.0.0 1.59483E-06
20108 29 P/A 44 None 0.1831 None gnomAD-4.0.0 1.59473E-06
20108 29 P/L 44 rs751528859 0.1831 None gnomAD-2.1.1 4.04E-06
20108 29 P/L 44 rs751528859 0.1831 None gnomAD-4.0.0 2.73906E-06
20108 29 P/S 44 None 0.1831 None gnomAD-4.0.0 3.18946E-06
20109 30 T/A 45 None 0.6718 None gnomAD-4.0.0 1.59397E-06
20109 30 T/I 45 rs2050161903 0.6718 None gnomAD-4.0.0 2.05409E-06
20109 30 T/N 45 rs2050161903 0.6718 None gnomAD-3.1.2 6.58E-06
20109 30 T/N 45 rs2050161903 0.6718 None gnomAD-4.0.0 1.86043E-06
20110 31 A/G 46 None 0.2717 None gnomAD-4.0.0 4.78042E-06
20112 33 W/C 48 None 0.1425 None gnomAD-4.0.0 6.84539E-07
20112 33 W/R 48 rs547962583 0.1425 None gnomAD-3.1.2 6.58E-06
20112 33 W/R 48 rs547962583 0.1425 None 1000 genomes 1.99681E-04
20112 33 W/R 48 rs547962583 0.1425 None gnomAD-4.0.0 1.85989E-06
20113 34 T/I 49 rs766111834 0.2355 None gnomAD-2.1.1 8.06E-06
20113 34 T/I 49 rs766111834 0.2355 None gnomAD-4.0.0 4.77876E-06
20113 34 T/K 49 rs766111834 0.2355 None gnomAD-2.1.1 4.03E-06
20113 34 T/K 49 rs766111834 0.2355 None gnomAD-4.0.0 3.18584E-06
20114 35 T/A 50 rs374632284 0.2216 None gnomAD-2.1.1 2.82E-05
20114 35 T/A 50 rs374632284 0.2216 None gnomAD-3.1.2 3.95E-05
20114 35 T/A 50 rs374632284 0.2216 None gnomAD-4.0.0 1.28223E-05
20115 36 D/E 51 rs376618165 0.9722 None gnomAD-2.1.1 2.42E-05
20115 36 D/E 51 rs376618165 0.9722 None gnomAD-4.0.0 2.66927E-05
20115 36 D/G 51 None 0.9722 None gnomAD-4.0.0 1.20032E-06
20115 36 D/N 51 rs369893671 0.9722 None gnomAD-2.1.1 2.5E-05
20115 36 D/N 51 rs369893671 0.9722 None gnomAD-3.1.2 5.92E-05
20115 36 D/N 51 rs369893671 0.9722 None gnomAD-4.0.0 1.98391E-05
20116 37 G/E 52 None 0.5972 None gnomAD-4.0.0 2.40064E-06
20117 38 S/R 55 rs527297991 0.4841 None gnomAD-4.0.0 6.84563E-07
20118 39 E/G 56 None 0.4803 None gnomAD-4.0.0 1.59228E-06
20119 40 I/T 58 None 0.1564 None gnomAD-4.0.0 1.59219E-06
20122 43 D/N 73 rs776191153 0.3717 None gnomAD-2.1.1 2.86E-05
20122 43 D/N 73 rs776191153 0.3717 None gnomAD-3.1.2 5.26E-05
20122 43 D/N 73 rs776191153 0.3717 None gnomAD-4.0.0 8.74065E-05
20123 44 E/K 102 rs1407608886 1.0091 None gnomAD-2.1.1 4.02E-06
20123 44 E/K 102 rs1407608886 1.0091 None gnomAD-4.0.0 1.36877E-06
20126 47 T/I 122 rs772536475 0.2683 None gnomAD-2.1.1 4.02E-06
20126 47 T/I 122 rs772536475 0.2683 None gnomAD-4.0.0 1.09497E-05
20126 47 T/K 122 None 0.2683 None gnomAD-4.0.0 2.05308E-06
20126 47 T/R 122 rs772536475 0.2683 None gnomAD-2.1.1 4.02E-06
20126 47 T/R 122 rs772536475 0.2683 None gnomAD-4.0.0 6.84359E-07
20129 50 T/A 127 rs746303359 0.4654 None gnomAD-2.1.1 1.21E-05
20129 50 T/A 127 rs746303359 0.4654 None gnomAD-3.1.2 6.58E-06
20129 50 T/A 127 rs746303359 0.4654 None gnomAD-4.0.0 6.40909E-06
20129 50 T/K 127 None 0.4654 None gnomAD-4.0.0 6.84376E-07
20129 50 T/R 127 rs2050149593 0.4654 None gnomAD-4.0.0 2.19E-05
20130 51 D/E 130 rs2050148296 0.4190 None gnomAD-3.1.2 6.58E-06
20130 51 D/E 130 rs2050148296 0.4190 None gnomAD-4.0.0 6.57696E-06
20130 51 D/H 130 rs772986855 0.4190 None gnomAD-2.1.1 8.05E-06
20130 51 D/H 130 rs772986855 0.4190 None gnomAD-4.0.0 3.18439E-06
20132 53 F/C 134 None 0.6951 None gnomAD-4.0.0 1.59223E-06
20132 53 F/L 134 rs1304980579 0.6951 None gnomAD-2.1.1 4.02E-06
20132 53 F/L 134 rs1304980579 0.6951 None gnomAD-4.0.0 1.59225E-06
20133 54 S/P 135 rs769272954 0.2147 None gnomAD-2.1.1 8.04E-06
20133 54 S/P 135 rs769272954 0.2147 None gnomAD-4.0.0 1.59223E-06
20134 55 S/L 136 None 0.1184 None gnomAD-4.0.0 1.20032E-06
20134 55 S/T 136 rs904878126 0.1184 None gnomAD-2.1.1 1.21E-05
20134 55 S/T 136 rs904878126 0.1184 None gnomAD-4.0.0 4.77652E-06
20135 56 V/A 137 None 0.1683 None gnomAD-4.0.0 1.59217E-06
20135 56 V/I 137 None 0.1683 None gnomAD-4.0.0 2.05317E-06
20136 57 L/H 138 rs1060500492 0.0706 None gnomAD-2.1.1 3.19E-05
20136 57 L/H 138 rs1060500492 0.0706 None gnomAD-3.1.2 1.32E-05
20136 57 L/H 138 rs1060500492 0.0706 None gnomAD-4.0.0 8.97353E-06
20137 58 T/N 139 rs747842187 0.1652 None gnomAD-3.1.2 6.58E-06
20137 58 T/N 139 rs747842187 0.1652 None gnomAD-4.0.0 2.56398E-06
20138 59 I/N 140 rs762525368 0.0760 None gnomAD-2.1.1 4.02E-06
20138 59 I/N 140 rs762525368 0.0760 None gnomAD-3.1.2 6.58E-06
20138 59 I/N 140 rs762525368 0.0760 None gnomAD-4.0.0 3.40949E-05
20138 59 I/T 140 rs762525368 0.0760 None gnomAD-4.0.0 6.84393E-07
20139 60 K/R 141 rs1412813943 0.3438 None gnomAD-2.1.1 4.02E-06
20139 60 K/R 141 rs1412813943 0.3438 None gnomAD-4.0.0 4.7771E-06
20140 61 N/S 143 rs1187229401 0.6574 None gnomAD-2.1.1 7.15E-06
20140 61 N/S 143 rs1187229401 0.6574 None gnomAD-3.1.2 1.32E-05
20140 61 N/S 143 rs1187229401 0.6574 None gnomAD-4.0.0 3.84579E-06
20140 61 N/T 143 None 0.6574 None gnomAD-4.0.0 1.59237E-06
20140 61 N/Y 143 rs879086626 0.6574 None gnomAD-4.0.0 1.43726E-05
20141 62 C/R 144 None 0.0865 None gnomAD-4.0.0 1.36884E-06
20147 68 G/E 152 rs754537684 0.2147 None gnomAD-2.1.1 2.42E-05
20147 68 G/E 152 rs754537684 0.2147 None gnomAD-4.0.0 8.21335E-06
20151 72 I/T 156 rs746925706 0.1088 None gnomAD-2.1.1 4.03E-06
20151 72 I/T 156 rs746925706 0.1088 None gnomAD-3.1.2 6.58E-06
20151 72 I/T 156 rs746925706 0.1088 None gnomAD-4.0.0 6.57765E-06
20152 73 T/A 157 None 0.2923 None gnomAD-4.0.0 1.20032E-06
20152 73 T/I 157 rs2050136717 0.2923 None gnomAD-4.0.0 7.5287E-06
20153 74 V/A 158 rs1340218064 0.1853 None gnomAD-2.1.1 3.19E-05
20153 74 V/A 158 rs1340218064 0.1853 None gnomAD-3.1.2 6.58E-06
20153 74 V/A 158 rs1340218064 0.1853 None gnomAD-4.0.0 6.5812E-06
20153 74 V/G 158 None 0.1853 None gnomAD-4.0.0 8.21301E-06
20155 76 N/H 161 rs1321298157 0.2170 None gnomAD-3.1.2 6.58E-06
20155 76 N/H 161 rs1321298157 0.2170 None gnomAD-4.0.0 6.5767E-06
20155 76 N/K 161 None 0.2170 None gnomAD-4.0.0 3.18451E-06
20155 76 N/S 161 rs369044697 0.2170 None gnomAD-2.1.1 4.03E-06
20155 76 N/S 161 rs369044697 0.2170 None gnomAD-3.1.2 6.58E-06
20155 76 N/S 161 rs369044697 0.2170 None gnomAD-4.0.0 3.84575E-06
20157 78 A/T 163 rs2050133454 0.7054 None gnomAD-3.1.2 6.58E-06
20157 78 A/T 163 rs2050133454 0.7054 None gnomAD-4.0.0 6.57601E-06
20158 79 G/C 164 rs375009570 0.4027 None gnomAD-2.1.1 4.03E-06
20158 79 G/C 164 rs375009570 0.4027 None gnomAD-3.1.2 6.58E-06
20158 79 G/C 164 rs375009570 0.4027 None gnomAD-4.0.0 8.05902E-06
20158 79 G/D 164 None 0.4027 None gnomAD-4.0.0 1.36882E-06
20158 79 G/S 164 rs375009570 0.4027 None gnomAD-2.1.1 2.42E-05
20158 79 G/S 164 rs375009570 0.4027 None gnomAD-3.1.2 1.97E-05
20158 79 G/S 164 rs375009570 0.4027 None gnomAD-4.0.0 2.16974E-05
20159 80 S/N 165 rs1005693391 0.5869 None gnomAD-4.0.0 1.20032E-06
20161 82 T/I 168 rs2050131574 0.3723 None gnomAD-4.0.0 3.42189E-06
20162 83 V/A 169 rs1268857249 0.4336 None gnomAD-3.1.2 6.58E-06
20162 83 V/A 169 rs1268857249 0.4336 None gnomAD-4.0.0 6.57592E-06
20162 83 V/I 169 rs371574493 0.4336 None gnomAD-2.1.1 4.03E-06
20162 83 V/I 169 rs371574493 0.4336 None gnomAD-4.0.0 3.18428E-06
20163 84 A/V 171 None 0.3002 None gnomAD-4.0.0 3.60097E-06
20164 85 V/E 172 rs794729467 0.1490 None gnomAD-2.1.1 7.15E-06
20164 85 V/E 172 rs794729467 0.1490 None gnomAD-3.1.2 1.97E-05
20164 85 V/E 172 rs794729467 0.1490 None gnomAD-4.0.0 3.7191E-06
20164 85 V/I 172 rs72646843 0.1490 None gnomAD-2.1.1 2.5E-05
20164 85 V/I 172 rs72646843 0.1490 None gnomAD-3.1.2 4.6E-05
20164 85 V/I 172 rs72646843 0.1490 None 1000 genomes 3.99361E-04
20164 85 V/I 172 rs72646843 0.1490 None gnomAD-4.0.0 4.40091E-05
20164 85 V/L 172 rs72646843 0.1490 None gnomAD-2.1.1 1.3082E-03
20164 85 V/L 172 rs72646843 0.1490 None gnomAD-3.1.2 3.75618E-03
20164 85 V/L 172 rs72646843 0.1490 None 1000 genomes 4.79233E-03
20164 85 V/L 172 rs72646843 0.1490 None gnomAD-4.0.0 7.14063E-04
20165 86 H/L 173 rs771554801 0.4144 None gnomAD-2.1.1 4.02E-06
20165 86 H/L 173 rs771554801 0.4144 None gnomAD-4.0.0 6.84352E-07
20165 86 H/Q 173 None 0.4144 None gnomAD-4.0.0 1.36869E-06
20165 86 H/R 173 rs771554801 0.4144 None gnomAD-2.1.1 1.07E-05
20165 86 H/R 173 rs771554801 0.4144 None gnomAD-3.1.2 6.58E-06
20165 86 H/R 173 rs771554801 0.4144 None gnomAD-4.0.0 6.19849E-06
20166 87 L/H 174 None 0.0921 None gnomAD-4.0.0 1.3687E-06
20166 87 L/I 174 None 0.0921 None gnomAD-4.0.0 1.59203E-06
20167 88 T/I 175 None 0.2757 None gnomAD-4.0.0 6.84356E-07
20167 88 T/P 175 None 0.2757 None gnomAD-4.0.0 1.59204E-06
20167 88 T/S 175 rs2050127510 0.2757 None gnomAD-4.0.0 1.36871E-06
20168 89 V/L 177 rs2050126636 0.0796 None gnomAD-3.1.2 6.58E-06
20168 89 V/L 177 rs2050126636 0.0796 None gnomAD-4.0.0 2.56356E-06