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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

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