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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
E P G P P G T P F V T S I S K D Q M L V Q W H E P V N D G G T K I I G Y H L E Q K E K N S I L W V K L N K T P I Q D T K F K T T G L D E G L E Y E F K V S A E N I V G I G K P S K V S E C F V A R D P C D P P G R P E A I V I T R N N V T L K W K K P A Y D G G S K I T G Y I V E K K D L P D G R W M K A S F T N V L E T E F T V S G L V E D Q R Y E F R V I A R N A A G N F S E P S D S S G A I T A R D E
E P G P P G T P F V T S I S K D Q M L V Q W H E P V N D G G T K I I G Y H L E Q K E K N S I L W V K L N K T P I Q D T K F K T T G L D E G L E Y E F K V S A E N I V G I G K P S K V S E C F V A R D - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
27073 2 P/R 2 None 0.1508 None gnomAD-4.0.0 6.84848E-07
27073 2 P/S 2 rs542799302 0.1508 None gnomAD-2.1.1 4.86E-05
27073 2 P/S 2 rs542799302 0.1508 None gnomAD-3.1.2 1.31E-05
27073 2 P/S 2 rs542799302 0.1508 None 1000 genomes 3.99361E-04
27073 2 P/S 2 rs542799302 0.1508 None gnomAD-4.0.0 2.1707E-05
27074 3 G/R 3 rs769814202 0.2699 None gnomAD-2.1.1 2.02E-05
27074 3 G/R 3 rs769814202 0.2699 None gnomAD-3.1.2 1.31E-05
27074 3 G/R 3 rs769814202 0.2699 None gnomAD-4.0.0 2.41896E-05
27075 4 P/S 4 None 0.4626 None gnomAD-4.0.0 1.36959E-05
27075 4 P/T 4 None 0.4626 None gnomAD-4.0.0 6.84796E-07
27077 6 G/E 6 rs866460539 0.2254 None gnomAD-2.1.1 3.19E-05
27077 6 G/E 6 rs866460539 0.2254 None gnomAD-3.1.2 6.57E-06
27077 6 G/E 6 rs866460539 0.2254 None gnomAD-4.0.0 2.03002E-06
27077 6 G/R 6 rs878898668 0.2254 None gnomAD-2.1.1 1.62E-05
27077 6 G/R 6 rs878898668 0.2254 None gnomAD-3.1.2 3.29E-05
27077 6 G/R 6 rs878898668 0.2254 None gnomAD-4.0.0 1.41165E-05
27077 6 G/V 6 None 0.2254 None gnomAD-4.0.0 1.20032E-06
27079 8 P/L 9 rs747977338 0.1217 None gnomAD-4.0.0 1.5944E-06
27079 8 P/R 9 rs747977338 0.1217 None gnomAD-2.1.1 4.05E-06
27079 8 P/R 9 rs747977338 0.1217 None gnomAD-4.0.0 1.5944E-06
27082 11 T/I 13 rs368265185 0.3899 None gnomAD-2.1.1 8.11E-06
27082 11 T/I 13 rs368265185 0.3899 None gnomAD-3.1.2 6.57E-06
27082 11 T/I 13 rs368265185 0.3899 None gnomAD-4.0.0 1.36456E-05
27082 11 T/K 13 rs368265185 0.3899 None gnomAD-4.0.0 6.84878E-07
27083 12 S/P 14 rs186273940 0.3972 None gnomAD-2.1.1 2.58928E-04
27083 12 S/P 14 rs186273940 0.3972 None gnomAD-3.1.2 9.86012E-04
27083 12 S/P 14 rs186273940 0.3972 None 1000 genomes 5.99042E-04
27083 12 S/P 14 rs186273940 0.3972 None gnomAD-4.0.0 4.15515E-04
27084 13 I/F 15 rs371498697 0.3397 None gnomAD-3.1.2 6.57E-06
27084 13 I/F 15 rs371498697 0.3397 None gnomAD-4.0.0 1.24041E-06
27084 13 I/V 15 rs371498697 0.3397 None gnomAD-2.1.1 3.25E-05
27084 13 I/V 15 rs371498697 0.3397 None gnomAD-3.1.2 5.92E-05
27084 13 I/V 15 rs371498697 0.3397 None gnomAD-4.0.0 3.47314E-05
27086 15 K/E 17 None 0.3499 None gnomAD-4.0.0 1.59458E-06
27087 16 D/N 18 None 0.3200 None gnomAD-4.0.0 1.59443E-06
27089 18 M/I 20 rs1213075962 0.0759 None gnomAD-2.1.1 8.09E-06
27089 18 M/I 20 rs1213075962 0.0759 None gnomAD-4.0.0 1.59346E-06
27089 18 M/K 20 None 0.0759 None gnomAD-4.0.0 3.18655E-06
27089 18 M/R 20 None 0.0759 None gnomAD-4.0.0 1.59328E-06
27090 19 L/P 21 rs1230737429 0.2916 None gnomAD-2.1.1 3.18E-05
27090 19 L/P 21 rs1230737429 0.2916 None gnomAD-3.1.2 6.57E-06
27090 19 L/P 21 rs1230737429 0.2916 None gnomAD-4.0.0 6.57281E-06
27091 20 V/E 22 None 0.0858 None gnomAD-4.0.0 1.59314E-06
27091 20 V/G 22 None 0.0858 None gnomAD-4.0.0 1.59314E-06
27092 21 Q/L 23 rs950280958 0.2428 None gnomAD-2.1.1 4.05E-06
27092 21 Q/L 23 rs950280958 0.2428 None gnomAD-4.0.0 1.59306E-06
27093 22 W/C 24 None 0.1046 None gnomAD-4.0.0 1.20032E-06
27093 22 W/L 24 rs758518537 0.1046 None gnomAD-2.1.1 4.05E-06
27093 22 W/L 24 rs758518537 0.1046 None gnomAD-4.0.0 1.59282E-06
27094 23 H/Q 25 rs556790419 0.7359 None gnomAD-2.1.1 1.21311E-04
27094 23 H/Q 25 rs556790419 0.7359 None gnomAD-3.1.2 3.29E-05
27094 23 H/Q 25 rs556790419 0.7359 None 1000 genomes 1.99681E-04
27094 23 H/Q 25 rs556790419 0.7359 None gnomAD-4.0.0 4.79119E-06
27094 23 H/Y 25 rs1363036038 0.7359 None gnomAD-2.1.1 6.37E-05
27094 23 H/Y 25 rs1363036038 0.7359 None gnomAD-3.1.2 1.97E-05
27094 23 H/Y 25 rs1363036038 0.7359 None gnomAD-4.0.0 1.97236E-05
27095 24 E/K 26 rs1415718775 0.5690 None gnomAD-4.0.0 1.36893E-06
27097 26 V/L 28 rs794729511 1.1490 None gnomAD-2.1.1 4.04E-06
27097 26 V/L 28 rs794729511 1.1490 None gnomAD-3.1.2 1.31E-05
27097 26 V/L 28 rs794729511 1.1490 None gnomAD-4.0.0 3.09925E-06
27097 26 V/M 28 rs794729511 1.1490 None gnomAD-2.1.1 4.04E-06
27097 26 V/M 28 rs794729511 1.1490 None gnomAD-3.1.2 6.57E-06
27097 26 V/M 28 rs794729511 1.1490 None gnomAD-4.0.0 9.29842E-06
27099 28 D/G 30 None 0.2724 None gnomAD-4.0.0 1.20032E-06
27099 28 D/Y 30 rs1320967672 0.2724 None gnomAD-4.0.0 1.20032E-06
27100 29 G/E 31 rs1455429334 0.3725 None gnomAD-2.1.1 4.05E-06
27100 29 G/E 31 rs1455429334 0.3725 None gnomAD-4.0.0 3.18552E-06
27101 30 G/A 32 rs201490050 0.5861 None gnomAD-2.1.1 4.05E-06
27101 30 G/A 32 rs201490050 0.5861 None gnomAD-4.0.0 6.84524E-07
27101 30 G/D 32 None 0.5861 None gnomAD-3.1.2 6.57E-06
27101 30 G/D 32 None 0.5861 None gnomAD-4.0.0 1.23995E-06
27101 30 G/S 32 rs1441990001 0.5861 None gnomAD-2.1.1 3.19E-05
27101 30 G/S 32 rs1441990001 0.5861 None gnomAD-3.1.2 2.63E-05
27101 30 G/S 32 rs1441990001 0.5861 None gnomAD-4.0.0 6.41139E-06
27101 30 G/V 32 rs201490050 0.5861 None gnomAD-2.1.1 9.71E-05
27101 30 G/V 32 rs201490050 0.5861 None gnomAD-3.1.2 3.09019E-04
27101 30 G/V 32 rs201490050 0.5861 None 1000 genomes 1.99681E-04
27101 30 G/V 32 rs201490050 0.5861 None gnomAD-4.0.0 6.44729E-05
27102 31 T/I 33 rs760944577 0.3289 None gnomAD-4.0.0 2.05358E-06
27102 31 T/S 33 None 0.3289 None gnomAD-2.1.1 4.06E-06
27102 31 T/S 33 None 0.3289 None gnomAD-4.0.0 6.84526E-07
27103 32 K/R 34 rs751284217 0.9235 None gnomAD-2.1.1 7.2E-06
27103 32 K/R 34 rs751284217 0.9235 None gnomAD-3.1.2 6.57E-06
27103 32 K/R 34 rs751284217 0.9235 None gnomAD-4.0.0 2.02995E-06
27105 34 I/L 36 None 0.4677 None gnomAD-4.0.0 1.36912E-06
27105 34 I/S 36 None 0.4677 None gnomAD-4.0.0 6.84562E-07
27105 34 I/T 36 rs763598647 0.4677 None gnomAD-2.1.1 4.06E-06
27105 34 I/T 36 rs763598647 0.4677 None gnomAD-3.1.2 6.57E-06
27105 34 I/T 36 rs763598647 0.4677 None gnomAD-4.0.0 4.33993E-06
27106 35 G/A 37 rs577183624 0.1040 None gnomAD-2.1.1 4.07E-06
27106 35 G/A 37 rs577183624 0.1040 None gnomAD-4.0.0 2.05379E-06
27106 35 G/D 37 rs577183624 0.1040 None gnomAD-2.1.1 8.13E-06
27106 35 G/D 37 rs577183624 0.1040 None gnomAD-3.1.2 3.95E-05
27106 35 G/D 37 rs577183624 0.1040 None 1000 genomes 3.99361E-04
27106 35 G/D 37 rs577183624 0.1040 None gnomAD-4.0.0 6.19996E-06
27107 36 Y/H 38 rs374968141 0.1100 None gnomAD-3.1.2 1.31E-05
27107 36 Y/H 38 rs374968141 0.1100 None gnomAD-4.0.0 1.31442E-05
27107 36 Y/N 38 None 0.1100 None gnomAD-4.0.0 2.40064E-06
27108 37 H/D 39 None 0.1670 None gnomAD-4.0.0 6.84658E-07
27108 37 H/R 39 rs761773428 0.1670 None gnomAD-2.1.1 1.22E-05
27108 37 H/R 39 rs761773428 0.1670 None gnomAD-4.0.0 1.11538E-05
27108 37 H/Y 39 None 0.1670 None gnomAD-4.0.0 6.84658E-07
27111 40 Q/H 42 None 0.1296 None gnomAD-4.0.0 1.5945E-06
27111 40 Q/P 42 rs776426627 0.1296 None gnomAD-2.1.1 4.09E-06
27112 41 K/E 43 rs534444792 0.0817 None gnomAD-2.1.1 8.18E-06
27112 41 K/E 43 rs534444792 0.0817 None gnomAD-3.1.2 6.57E-06
27112 41 K/E 43 rs534444792 0.0817 None 1000 genomes 1.99681E-04
27112 41 K/E 43 rs534444792 0.0817 None gnomAD-4.0.0 5.13197E-06
27112 41 K/T 43 None 0.0817 None gnomAD-4.0.0 1.5946E-06
27114 43 K/N 50 None 0.3558 None gnomAD-4.0.0 1.20032E-06
27114 43 K/Q 50 rs962009573 0.3558 None gnomAD-3.1.2 6.57E-06
27114 43 K/Q 50 rs962009573 0.3558 None gnomAD-4.0.0 4.34183E-06
27116 45 S/G 60 rs780359890 0.1998 None gnomAD-2.1.1 4.1E-06
27116 45 S/G 60 rs780359890 0.1998 None gnomAD-4.0.0 1.5951E-06
27116 45 S/N 60 rs1234317183 0.1998 None gnomAD-2.1.1 4.1E-06
27116 45 S/N 60 rs1234317183 0.1998 None gnomAD-3.1.2 6.57E-06
27116 45 S/N 60 rs1234317183 0.1998 None gnomAD-4.0.0 3.72202E-06
27117 46 I/T 63 rs1326162454 1.0503 None gnomAD-2.1.1 4.1E-06
27117 46 I/T 63 rs1326162454 1.0503 None gnomAD-4.0.0 3.19026E-06
27118 47 L/S 64 None 0.7352 None gnomAD-4.0.0 1.20032E-06
27118 47 L/V 64 rs1293763784 0.7352 None gnomAD-2.1.1 4.1E-06
27118 47 L/V 64 rs1293763784 0.7352 None gnomAD-4.0.0 1.59518E-06
27120 49 V/I 66 rs1015972053 0.4940 None gnomAD-4.0.0 7.53498E-06
27123 52 N/S 69 rs1170042602 0.1394 None gnomAD-4.0.0 4.80129E-06
27123 52 N/T 69 None 0.1394 None gnomAD-4.0.0 4.80129E-06
27124 53 K/N 70 None 1.0729 None gnomAD-4.0.0 6.84961E-07
27125 54 T/A 72 rs1362825687 0.7111 None gnomAD-2.1.1 4.08E-06
27125 54 T/A 72 rs1362825687 0.7111 None gnomAD-4.0.0 6.84869E-07
27125 54 T/I 72 rs1407261959 0.7111 None gnomAD-3.1.2 6.58E-06
27125 54 T/I 72 rs1407261959 0.7111 None gnomAD-4.0.0 6.57523E-06
27125 54 T/P 72 rs1362825687 0.7111 None gnomAD-4.0.0 2.73947E-06
27126 55 P/A 75 None 0.3399 None gnomAD-4.0.0 1.59452E-06
27126 55 P/T 75 None 0.3399 None gnomAD-4.0.0 1.59452E-06
27127 56 I/F 77 None 0.0939 None gnomAD-4.0.0 6.84713E-07
27127 56 I/L 77 rs1325322358 0.0939 None gnomAD-2.1.1 4.07E-06
27127 56 I/L 77 rs1325322358 0.0939 None gnomAD-3.1.2 6.57E-06
27127 56 I/L 77 rs1325322358 0.0939 None gnomAD-4.0.0 1.86033E-06
27127 56 I/T 77 rs772246317 0.0939 None gnomAD-2.1.1 4.07E-06
27127 56 I/T 77 rs772246317 0.0939 None gnomAD-4.0.0 1.5939E-06
27129 58 D/E 88 None 0.4555 None gnomAD-4.0.0 6.84659E-07
27129 58 D/H 88 rs778910088 0.4555 None gnomAD-2.1.1 8.12E-06
27129 58 D/H 88 rs778910088 0.4555 None gnomAD-4.0.0 3.18747E-06
27130 59 T/A 89 rs1458266524 0.2316 None gnomAD-2.1.1 4.06E-06
27130 59 T/A 89 rs1458266524 0.2316 None gnomAD-4.0.0 3.18701E-06
27130 59 T/I 89 rs757768218 0.2316 None gnomAD-2.1.1 4.05E-06
27130 59 T/I 89 rs757768218 0.2316 None gnomAD-4.0.0 6.16132E-06
27131 60 K/R 90 None 0.4329 None gnomAD-4.0.0 1.20032E-06
27133 62 K/E 92 None 0.4511 None gnomAD-4.0.0 1.59287E-06
27133 62 K/R 92 None 0.4511 None gnomAD-4.0.0 1.20032E-06
27134 63 T/I 93 None 0.1140 None gnomAD-4.0.0 6.84497E-07
27135 64 T/A 94 None 0.7316 None gnomAD-4.0.0 1.20032E-06
27135 64 T/I 94 rs1341053219 0.7316 None gnomAD-3.1.2 6.57E-06
27135 64 T/I 94 rs1341053219 0.7316 None gnomAD-4.0.0 6.57402E-06
27136 65 G/A 96 rs879200560 0.5167 None gnomAD-3.1.2 1.32E-05
27136 65 G/A 96 rs879200560 0.5167 None gnomAD-4.0.0 2.47974E-05
27138 67 D/H 98 None 0.6023 None gnomAD-4.0.0 2.05333E-06
27138 67 D/Y 98 rs1336363874 0.6023 None gnomAD-4.0.0 6.84443E-07
27139 68 E/K 99 rs763198311 0.4014 None gnomAD-2.1.1 4.04E-06
27139 68 E/K 99 rs763198311 0.4014 None gnomAD-4.0.0 2.05336E-06
27140 69 G/D 100 None 0.2125 None gnomAD-4.0.0 1.20032E-06
27140 69 G/S 100 None 0.2125 None gnomAD-4.0.0 1.20032E-06
27142 71 E/K 103 None 0.2965 None gnomAD-4.0.0 1.20032E-06
27143 72 Y/C 104 rs1288732444 0.0981 None gnomAD-3.1.2 6.57E-06
27143 72 Y/C 104 rs1288732444 0.0981 None gnomAD-4.0.0 6.5716E-06
27144 73 E/G 105 rs794729512 0.1753 None gnomAD-4.0.0 8.40225E-06
27146 75 K/N 107 None 0.1043 None gnomAD-4.0.0 1.20032E-06
27148 77 S/A 109 None 0.1355 None gnomAD-4.0.0 6.8437E-07
27148 77 S/P 109 rs1705027255 0.1355 None gnomAD-3.1.2 6.57E-06
27148 77 S/P 109 rs1705027255 0.1355 None gnomAD-4.0.0 1.23967E-06
27150 79 E/K 111 rs1466718214 0.2337 None gnomAD-2.1.1 8.06E-06
27150 79 E/K 111 rs1466718214 0.2337 None gnomAD-4.0.0 3.18416E-06
27152 81 I/T 113 rs756551242 0.8576 None gnomAD-2.1.1 4.03E-06
27152 81 I/T 113 rs756551242 0.8576 None gnomAD-3.1.2 1.31E-05
27152 81 I/T 113 rs756551242 0.8576 None gnomAD-4.0.0 4.33879E-06
27153 82 V/I 114 rs908346441 0.6492 None gnomAD-2.1.1 4.03E-06
27153 82 V/I 114 rs908346441 0.6492 None gnomAD-4.0.0 2.05305E-06
27154 83 G/S 115 None 0.2023 None gnomAD-4.0.0 1.592E-06
27155 84 I/T 117 rs397517720 0.4577 None gnomAD-2.1.1 7.15E-05
27155 84 I/T 117 rs397517720 0.4577 None gnomAD-3.1.2 1.11739E-04
27155 84 I/T 117 rs397517720 0.4577 None gnomAD-4.0.0 4.46255E-05
27156 85 G/D 118 None 0.1532 None gnomAD-4.0.0 4.77582E-06
27157 86 K/N 119 None 0.8426 None gnomAD-4.0.0 1.20032E-06
27158 87 P/A 120 rs200771189 0.4002 None gnomAD-2.1.1 4.11328E-04
27158 87 P/A 120 rs200771189 0.4002 None gnomAD-3.1.2 5.7206E-04
27158 87 P/A 120 rs200771189 0.4002 None gnomAD-4.0.0 5.18792E-04
27158 87 P/R 120 rs762635284 0.4002 None gnomAD-2.1.1 4.03E-06
27158 87 P/R 120 rs762635284 0.4002 None gnomAD-4.0.0 1.59196E-06
27159 88 S/R 121 None 0.1128 None gnomAD-4.0.0 1.20032E-06
27159 88 S/T 121 rs1173082517 0.1128 None gnomAD-2.1.1 3.18E-05
27160 89 K/N 122 rs764904296 0.8404 None gnomAD-2.1.1 4.03E-06
27160 89 K/Q 122 rs749955874 0.8404 None gnomAD-2.1.1 4.03E-06
27160 89 K/R 122 None 0.8404 None gnomAD-4.0.0 1.20032E-06
27161 90 V/A 123 rs761391019 0.3111 None gnomAD-2.1.1 4.03E-06
27161 90 V/A 123 rs761391019 0.3111 None gnomAD-4.0.0 6.15888E-06
27161 90 V/E 123 rs761391019 0.3111 None gnomAD-2.1.1 8.06E-06
27161 90 V/E 123 rs761391019 0.3111 None gnomAD-3.1.2 6.57E-06
27161 90 V/E 123 rs761391019 0.3111 None gnomAD-4.0.0 4.33857E-06
27161 90 V/L 123 None 0.3111 None gnomAD-4.0.0 1.59191E-06
27162 91 S/L 124 rs763903239 0.1412 None gnomAD-2.1.1 1.43E-05
27162 91 S/L 124 rs763903239 0.1412 None gnomAD-3.1.2 2.63E-05
27162 91 S/L 124 rs763903239 0.1412 None gnomAD-4.0.0 7.43772E-06
27162 91 S/P 124 rs1387276571 0.1412 None gnomAD-2.1.1 4.03E-06
27164 93 C/R 126 None 0.2987 None gnomAD-4.0.0 1.59187E-06
27165 94 F/S 127 rs1413349026 0.1822 None gnomAD-3.1.2 6.57E-06
27165 94 F/S 127 rs1413349026 0.1822 None gnomAD-4.0.0 6.57393E-06
27166 95 V/I 129 None 0.2833 None gnomAD-4.0.0 1.36863E-06
27167 96 A/T 130 rs775102427 0.0649 None gnomAD-2.1.1 4.03E-06
27167 96 A/T 130 rs775102427 0.0649 None gnomAD-3.1.2 6.57E-06
27167 96 A/T 130 rs775102427 0.0649 None gnomAD-4.0.0 6.57324E-06
27167 96 A/V 130 None 0.0649 None gnomAD-4.0.0 1.20032E-06
27168 97 R/C 131 rs377616334 0.1948 None gnomAD-2.1.1 2.86E-05
27168 97 R/C 131 rs377616334 0.1948 None gnomAD-3.1.2 2.63E-05
27168 97 R/C 131 rs377616334 0.1948 None 1000 genomes 1.99681E-04
27168 97 R/C 131 rs377616334 0.1948 None gnomAD-4.0.0 8.67691E-06
27168 97 R/G 131 rs377616334 0.1948 None gnomAD-2.1.1 8.06E-06
27168 97 R/G 131 rs377616334 0.1948 None gnomAD-4.0.0 1.36865E-06
27168 97 R/H 131 rs374160272 0.1948 None gnomAD-2.1.1 3.93E-05
27168 97 R/H 131 rs374160272 0.1948 None gnomAD-3.1.2 5.26E-05
27168 97 R/H 131 rs374160272 0.1948 None gnomAD-4.0.0 3.78077E-05