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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
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 0.4528 None gnomAD-2.1.1 4.44E-06
20080 1 L/V 1 rs1559592788 0.4528 None gnomAD-4.0.0 2.78783E-06
20081 2 D/G 2 rs369680191 0.4290 None gnomAD-2.1.1 2.22E-05
20081 2 D/G 2 rs369680191 0.4290 None gnomAD-4.0.0 9.05774E-06
20081 2 D/H 2 rs773444432 0.4290 None gnomAD-2.1.1 4.44E-06
20081 2 D/H 2 rs773444432 0.4290 None gnomAD-4.0.0 1.66195E-06
20082 3 V/E 3 None 0.5975 None gnomAD-4.0.0 6.97569E-07
20082 3 V/G 3 None 0.5975 None gnomAD-4.0.0 6.97572E-07
20085 6 I/N 8 None 0.4531 None gnomAD-4.0.0 6.96954E-07
20085 6 I/T 8 rs763870161 0.4531 None gnomAD-2.1.1 4.47E-06
20085 6 I/T 8 rs763870161 0.4531 None gnomAD-3.1.2 6.58E-06
20085 6 I/T 8 rs763870161 0.4531 None gnomAD-4.0.0 2.3316E-05
20085 6 I/V 8 rs794729466 0.4531 None gnomAD-2.1.1 4.46E-06
20085 6 I/V 8 rs794729466 0.4531 None gnomAD-4.0.0 1.6618E-06
20087 8 G/D 11 None 0.3377 None gnomAD-4.0.0 1.20032E-06
20087 8 G/S 11 rs761836336 0.3377 None gnomAD-2.1.1 4.46E-06
20087 8 G/V 11 None 0.3377 None gnomAD-4.0.0 3.60097E-06
20088 9 L/H 13 rs747560869 0.3015 None gnomAD-2.1.1 4.4E-06
20088 9 L/H 13 rs747560869 0.3015 None gnomAD-4.0.0 6.95384E-07
20088 9 L/P 13 rs747560869 0.3015 None gnomAD-3.1.2 6.58E-06
20088 9 L/P 13 rs747560869 0.3015 None gnomAD-4.0.0 2.51552E-06
20088 9 L/V 13 rs769097181 0.3015 None gnomAD-2.1.1 2.65E-05
20088 9 L/V 13 rs769097181 0.3015 None gnomAD-4.0.0 1.80914E-05
20089 10 V/A 14 rs886039085 0.5000 None gnomAD-2.1.1 1.76E-05
20089 10 V/A 14 rs886039085 0.5000 None gnomAD-3.1.2 6.58E-06
20089 10 V/A 14 rs886039085 0.5000 None gnomAD-4.0.0 2.32634E-05
20089 10 V/M 14 rs2050176457 0.5000 None gnomAD-4.0.0 1.65421E-06
20090 11 V/E 16 None 0.1699 None gnomAD-4.0.0 1.20032E-06
20091 12 K/N 18 rs775961664 0.7801 None gnomAD-2.1.1 4.29E-06
20091 12 K/N 18 rs775961664 0.7801 None gnomAD-4.0.0 1.38387E-06
20092 13 A/G 23 rs1276745153 0.4163 None gnomAD-2.1.1 4.26E-06
20092 13 A/G 23 rs1276745153 0.4163 None gnomAD-4.0.0 6.91419E-07
20092 13 A/T 23 None 0.4163 None gnomAD-4.0.0 1.63377E-06
20092 13 A/V 23 rs1276745153 0.4163 None gnomAD-3.1.2 6.58E-06
20092 13 A/V 23 rs1276745153 0.4163 None gnomAD-4.0.0 1.2513E-06
20093 14 G/R 24 rs1229011306 0.2983 None gnomAD-2.1.1 1.28E-05
20093 14 G/R 24 rs1229011306 0.2983 None gnomAD-4.0.0 4.89598E-06
20094 15 T/A 25 None 0.2997 None gnomAD-4.0.0 2.07046E-06
20094 15 T/S 25 rs772591561 0.2997 None gnomAD-2.1.1 2.23E-05
20094 15 T/S 25 rs772591561 0.2997 None gnomAD-3.1.2 6.58E-06
20094 15 T/S 25 rs772591561 0.2997 None gnomAD-4.0.0 5.62147E-06
20097 18 R/K 29 None 0.4763 None gnomAD-4.0.0 1.61338E-06
20098 19 F/S 30 None 0.1185 None gnomAD-4.0.0 2.75181E-06
20099 20 P/R 31 None 0.4711 None gnomAD-4.0.0 6.87377E-07
20100 21 A/T 33 rs748929812 0.1454 None gnomAD-2.1.1 3.31E-05
20100 21 A/T 33 rs748929812 0.1454 None gnomAD-4.0.0 1.85614E-05
20100 21 A/V 33 rs1388164549 0.1454 None gnomAD-2.1.1 4.14E-06
20100 21 A/V 33 rs1388164549 0.1454 None gnomAD-4.0.0 4.82417E-06
20101 22 I/T 34 rs777610858 0.7757 None gnomAD-2.1.1 1.1E-05
20101 22 I/T 34 rs777610858 0.7757 None gnomAD-3.1.2 1.32E-05
20101 22 I/T 34 rs777610858 0.7757 None gnomAD-4.0.0 1.92838E-05
20101 22 I/V 34 rs2050170948 0.7757 None gnomAD-4.0.0 6.87031E-07
20102 23 I/L 35 rs755647048 0.1381 None gnomAD-2.1.1 4.12E-06
20102 23 I/L 35 rs755647048 0.1381 None gnomAD-4.0.0 6.86685E-07
20102 23 I/M 35 None 0.1381 None gnomAD-4.0.0 1.60376E-06
20102 23 I/T 35 rs998020901 0.1381 None gnomAD-2.1.1 4.11E-06
20102 23 I/T 35 rs998020901 0.1381 None gnomAD-4.0.0 1.60437E-06
20102 23 I/V 35 rs755647048 0.1381 None gnomAD-2.1.1 4.12E-06
20102 23 I/V 35 rs755647048 0.1381 None gnomAD-4.0.0 5.49348E-06
20104 25 G/S 40 rs747671998 0.3286 None gnomAD-2.1.1 4.09E-06
20104 25 G/S 40 rs747671998 0.3286 None gnomAD-4.0.0 1.3727E-06
20105 26 V/G 41 rs727504490 0.8591 None gnomAD-2.1.1 2.16E-05
20105 26 V/G 41 rs727504490 0.8591 None gnomAD-3.1.2 2.63E-05
20105 26 V/G 41 rs727504490 0.8591 None gnomAD-4.0.0 2.54463E-05
20105 26 V/M 41 rs2050166133 0.8591 None gnomAD-4.0.0 3.42767E-06
20106 27 P/T 42 rs1576103220 0.4984 None gnomAD-4.0.0 6.85284E-07
20107 28 V/G 43 rs1250017638 0.4709 None gnomAD-2.1.1 4.05E-06
20107 28 V/G 43 rs1250017638 0.4709 None gnomAD-4.0.0 1.59483E-06
20108 29 P/A 44 None 0.1816 None gnomAD-4.0.0 1.59473E-06
20108 29 P/L 44 rs751528859 0.1816 None gnomAD-2.1.1 4.04E-06
20108 29 P/L 44 rs751528859 0.1816 None gnomAD-4.0.0 2.73906E-06
20108 29 P/S 44 None 0.1816 None gnomAD-4.0.0 3.18946E-06
20109 30 T/A 45 None 0.6543 None gnomAD-4.0.0 1.59397E-06
20109 30 T/I 45 rs2050161903 0.6543 None gnomAD-4.0.0 2.05409E-06
20109 30 T/N 45 rs2050161903 0.6543 None gnomAD-3.1.2 6.58E-06
20109 30 T/N 45 rs2050161903 0.6543 None gnomAD-4.0.0 1.86043E-06
20110 31 A/G 46 None 0.2876 None gnomAD-4.0.0 4.78042E-06
20112 33 W/C 48 None 0.1391 None gnomAD-4.0.0 6.84539E-07
20112 33 W/R 48 rs547962583 0.1391 None gnomAD-3.1.2 6.58E-06
20112 33 W/R 48 rs547962583 0.1391 None 1000 genomes 1.99681E-04
20112 33 W/R 48 rs547962583 0.1391 None gnomAD-4.0.0 1.85989E-06
20113 34 T/I 49 rs766111834 0.2339 None gnomAD-2.1.1 8.06E-06
20113 34 T/I 49 rs766111834 0.2339 None gnomAD-4.0.0 4.77876E-06
20113 34 T/K 49 rs766111834 0.2339 None gnomAD-2.1.1 4.03E-06
20113 34 T/K 49 rs766111834 0.2339 None gnomAD-4.0.0 3.18584E-06
20114 35 T/A 50 rs374632284 0.1974 None gnomAD-2.1.1 2.82E-05
20114 35 T/A 50 rs374632284 0.1974 None gnomAD-3.1.2 3.95E-05
20114 35 T/A 50 rs374632284 0.1974 None gnomAD-4.0.0 1.28223E-05
20115 36 D/E 51 rs376618165 0.8951 None gnomAD-2.1.1 2.42E-05
20115 36 D/E 51 rs376618165 0.8951 None gnomAD-4.0.0 2.66927E-05
20115 36 D/G 51 None 0.8951 None gnomAD-4.0.0 1.20032E-06
20115 36 D/N 51 rs369893671 0.8951 None gnomAD-2.1.1 2.5E-05
20115 36 D/N 51 rs369893671 0.8951 None gnomAD-3.1.2 5.92E-05
20115 36 D/N 51 rs369893671 0.8951 None gnomAD-4.0.0 1.98391E-05
20116 37 G/E 52 None 0.6086 None gnomAD-4.0.0 2.40064E-06
20117 38 S/R 55 rs527297991 0.4678 None gnomAD-4.0.0 6.84563E-07
20118 39 E/G 56 None 0.5019 None gnomAD-4.0.0 1.59228E-06
20119 40 I/T 58 None 0.1511 None gnomAD-4.0.0 1.59219E-06
20122 43 D/N 73 rs776191153 0.3583 None gnomAD-2.1.1 2.86E-05
20122 43 D/N 73 rs776191153 0.3583 None gnomAD-3.1.2 5.26E-05
20122 43 D/N 73 rs776191153 0.3583 None gnomAD-4.0.0 8.74065E-05
20123 44 E/K 102 rs1407608886 0.9837 None gnomAD-2.1.1 4.02E-06
20123 44 E/K 102 rs1407608886 0.9837 None gnomAD-4.0.0 1.36877E-06
20126 47 T/I 122 rs772536475 0.2625 None gnomAD-2.1.1 4.02E-06
20126 47 T/I 122 rs772536475 0.2625 None gnomAD-4.0.0 1.09497E-05
20126 47 T/K 122 None 0.2625 None gnomAD-4.0.0 2.05308E-06
20126 47 T/R 122 rs772536475 0.2625 None gnomAD-2.1.1 4.02E-06
20126 47 T/R 122 rs772536475 0.2625 None gnomAD-4.0.0 6.84359E-07
20129 50 T/A 127 rs746303359 0.4565 None gnomAD-2.1.1 1.21E-05
20129 50 T/A 127 rs746303359 0.4565 None gnomAD-3.1.2 6.58E-06
20129 50 T/A 127 rs746303359 0.4565 None gnomAD-4.0.0 6.40909E-06
20129 50 T/K 127 None 0.4565 None gnomAD-4.0.0 6.84376E-07
20129 50 T/R 127 rs2050149593 0.4565 None gnomAD-4.0.0 2.19E-05
20130 51 D/E 130 rs2050148296 0.3724 None gnomAD-3.1.2 6.58E-06
20130 51 D/E 130 rs2050148296 0.3724 None gnomAD-4.0.0 6.57696E-06
20130 51 D/H 130 rs772986855 0.3724 None gnomAD-2.1.1 8.05E-06
20130 51 D/H 130 rs772986855 0.3724 None gnomAD-4.0.0 3.18439E-06
20132 53 F/C 134 None 0.6642 None gnomAD-4.0.0 1.59223E-06
20132 53 F/L 134 rs1304980579 0.6642 None gnomAD-2.1.1 4.02E-06
20132 53 F/L 134 rs1304980579 0.6642 None gnomAD-4.0.0 1.59225E-06
20133 54 S/P 135 rs769272954 0.2107 None gnomAD-2.1.1 8.04E-06
20133 54 S/P 135 rs769272954 0.2107 None gnomAD-4.0.0 1.59223E-06
20134 55 S/L 136 None 0.1129 None gnomAD-4.0.0 1.20032E-06
20134 55 S/T 136 rs904878126 0.1129 None gnomAD-2.1.1 1.21E-05
20134 55 S/T 136 rs904878126 0.1129 None gnomAD-4.0.0 4.77652E-06
20135 56 V/A 137 None 0.1602 None gnomAD-4.0.0 1.59217E-06
20135 56 V/I 137 None 0.1602 None gnomAD-4.0.0 2.05317E-06
20136 57 L/H 138 rs1060500492 0.0672 None gnomAD-2.1.1 3.19E-05
20136 57 L/H 138 rs1060500492 0.0672 None gnomAD-3.1.2 1.32E-05
20136 57 L/H 138 rs1060500492 0.0672 None gnomAD-4.0.0 8.97353E-06
20137 58 T/N 139 rs747842187 0.1656 None gnomAD-3.1.2 6.58E-06
20137 58 T/N 139 rs747842187 0.1656 None gnomAD-4.0.0 2.56398E-06
20138 59 I/N 140 rs762525368 0.0735 None gnomAD-2.1.1 4.02E-06
20138 59 I/N 140 rs762525368 0.0735 None gnomAD-3.1.2 6.58E-06
20138 59 I/N 140 rs762525368 0.0735 None gnomAD-4.0.0 3.40949E-05
20138 59 I/T 140 rs762525368 0.0735 None gnomAD-4.0.0 6.84393E-07
20139 60 K/R 141 rs1412813943 0.2953 None gnomAD-2.1.1 4.02E-06
20139 60 K/R 141 rs1412813943 0.2953 None gnomAD-4.0.0 4.7771E-06
20140 61 N/S 143 rs1187229401 0.5681 None gnomAD-2.1.1 7.15E-06
20140 61 N/S 143 rs1187229401 0.5681 None gnomAD-3.1.2 1.32E-05
20140 61 N/S 143 rs1187229401 0.5681 None gnomAD-4.0.0 3.84579E-06
20140 61 N/T 143 None 0.5681 None gnomAD-4.0.0 1.59237E-06
20140 61 N/Y 143 rs879086626 0.5681 None gnomAD-4.0.0 1.43726E-05
20141 62 C/R 144 None 0.0812 None gnomAD-4.0.0 1.36884E-06
20147 68 G/E 152 rs754537684 0.2169 None gnomAD-2.1.1 2.42E-05
20147 68 G/E 152 rs754537684 0.2169 None gnomAD-4.0.0 8.21335E-06
20151 72 I/T 156 rs746925706 0.1128 None gnomAD-2.1.1 4.03E-06
20151 72 I/T 156 rs746925706 0.1128 None gnomAD-3.1.2 6.58E-06
20151 72 I/T 156 rs746925706 0.1128 None gnomAD-4.0.0 6.57765E-06
20152 73 T/A 157 None 0.2828 None gnomAD-4.0.0 1.20032E-06
20152 73 T/I 157 rs2050136717 0.2828 None gnomAD-4.0.0 7.5287E-06
20153 74 V/A 158 rs1340218064 0.2345 None gnomAD-2.1.1 3.19E-05
20153 74 V/A 158 rs1340218064 0.2345 None gnomAD-3.1.2 6.58E-06
20153 74 V/A 158 rs1340218064 0.2345 None gnomAD-4.0.0 6.5812E-06
20153 74 V/G 158 None 0.2345 None gnomAD-4.0.0 8.21301E-06
20155 76 N/H 161 rs1321298157 0.2113 None gnomAD-3.1.2 6.58E-06
20155 76 N/H 161 rs1321298157 0.2113 None gnomAD-4.0.0 6.5767E-06
20155 76 N/K 161 None 0.2113 None gnomAD-4.0.0 3.18451E-06
20155 76 N/S 161 rs369044697 0.2113 None gnomAD-2.1.1 4.03E-06
20155 76 N/S 161 rs369044697 0.2113 None gnomAD-3.1.2 6.58E-06
20155 76 N/S 161 rs369044697 0.2113 None gnomAD-4.0.0 3.84575E-06
20157 78 A/T 163 rs2050133454 0.6914 None gnomAD-3.1.2 6.58E-06
20157 78 A/T 163 rs2050133454 0.6914 None gnomAD-4.0.0 6.57601E-06
20158 79 G/C 164 rs375009570 0.4037 None gnomAD-2.1.1 4.03E-06
20158 79 G/C 164 rs375009570 0.4037 None gnomAD-3.1.2 6.58E-06
20158 79 G/C 164 rs375009570 0.4037 None gnomAD-4.0.0 8.05902E-06
20158 79 G/D 164 None 0.4037 None gnomAD-4.0.0 1.36882E-06
20158 79 G/S 164 rs375009570 0.4037 None gnomAD-2.1.1 2.42E-05
20158 79 G/S 164 rs375009570 0.4037 None gnomAD-3.1.2 1.97E-05
20158 79 G/S 164 rs375009570 0.4037 None gnomAD-4.0.0 2.16974E-05
20159 80 S/N 165 rs1005693391 0.5997 None gnomAD-4.0.0 1.20032E-06
20161 82 T/I 168 rs2050131574 0.3819 None gnomAD-4.0.0 3.42189E-06
20162 83 V/A 169 rs1268857249 0.4194 None gnomAD-3.1.2 6.58E-06
20162 83 V/A 169 rs1268857249 0.4194 None gnomAD-4.0.0 6.57592E-06
20162 83 V/I 169 rs371574493 0.4194 None gnomAD-2.1.1 4.03E-06
20162 83 V/I 169 rs371574493 0.4194 None gnomAD-4.0.0 3.18428E-06
20163 84 A/V 171 None 0.2885 None gnomAD-4.0.0 3.60097E-06
20164 85 V/E 172 rs794729467 0.1341 None gnomAD-2.1.1 7.15E-06
20164 85 V/E 172 rs794729467 0.1341 None gnomAD-3.1.2 1.97E-05
20164 85 V/E 172 rs794729467 0.1341 None gnomAD-4.0.0 3.7191E-06
20164 85 V/I 172 rs72646843 0.1341 None gnomAD-2.1.1 2.5E-05
20164 85 V/I 172 rs72646843 0.1341 None gnomAD-3.1.2 4.6E-05
20164 85 V/I 172 rs72646843 0.1341 None 1000 genomes 3.99361E-04
20164 85 V/I 172 rs72646843 0.1341 None gnomAD-4.0.0 4.40091E-05
20164 85 V/L 172 rs72646843 0.1341 None gnomAD-2.1.1 1.3082E-03
20164 85 V/L 172 rs72646843 0.1341 None gnomAD-3.1.2 3.75618E-03
20164 85 V/L 172 rs72646843 0.1341 None 1000 genomes 4.79233E-03
20164 85 V/L 172 rs72646843 0.1341 None gnomAD-4.0.0 7.14063E-04
20165 86 H/L 173 rs771554801 0.4114 None gnomAD-2.1.1 4.02E-06
20165 86 H/L 173 rs771554801 0.4114 None gnomAD-4.0.0 6.84352E-07
20165 86 H/Q 173 None 0.4114 None gnomAD-4.0.0 1.36869E-06
20165 86 H/R 173 rs771554801 0.4114 None gnomAD-2.1.1 1.07E-05
20165 86 H/R 173 rs771554801 0.4114 None gnomAD-3.1.2 6.58E-06
20165 86 H/R 173 rs771554801 0.4114 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 0.2997 None gnomAD-4.0.0 6.84356E-07
20167 88 T/P 175 None 0.2997 None gnomAD-4.0.0 1.59204E-06
20167 88 T/S 175 rs2050127510 0.2997 None gnomAD-4.0.0 1.36871E-06
20168 89 V/L 177 rs2050126636 0.1017 None gnomAD-3.1.2 6.58E-06
20168 89 V/L 177 rs2050126636 0.1017 None gnomAD-4.0.0 2.56356E-06