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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
29238 2 P/S 2 rs1701983890 0.1326 None gnomAD-4.0.0 1.20035E-06
29240 4 P/S 4 None 0.4252 None gnomAD-4.0.0 1.20033E-06
29240 4 P/T 4 None 0.4252 None gnomAD-4.0.0 3.60098E-06
29242 6 S/T 6 rs1416855828 0.1999 None gnomAD-3.1.2 6.57E-06
29242 6 S/T 6 rs1416855828 0.1999 None gnomAD-4.0.0 2.02983E-06
29243 7 T/I 7 rs1559256317 0.3600 None gnomAD-2.1.1 8.05E-06
29243 7 T/I 7 rs1559256317 0.3600 None gnomAD-4.0.0 3.18227E-06
29244 8 P/A 9 rs779810701 0.1266 None gnomAD-2.1.1 4.02E-06
29244 8 P/A 9 rs779810701 0.1266 None gnomAD-3.1.2 1.31E-05
29244 8 P/A 9 rs779810701 0.1266 None gnomAD-4.0.0 1.31306E-05
29244 8 P/S 9 rs779810701 0.1266 None gnomAD-2.1.1 1.21E-05
29244 8 P/S 9 rs779810701 0.1266 None gnomAD-3.1.2 6.57E-06
29244 8 P/S 9 rs779810701 0.1266 None gnomAD-4.0.0 4.33763E-06
29245 9 W/C 11 rs745430117 0.3413 None gnomAD-2.1.1 4.02E-06
29245 9 W/C 11 rs745430117 0.3413 None gnomAD-4.0.0 1.59116E-06
29245 9 W/G 11 None 0.3413 None gnomAD-4.0.0 4.80129E-06
29245 9 W/R 11 rs771722716 0.3413 None gnomAD-2.1.1 4.02E-06
29245 9 W/R 11 rs771722716 0.3413 None gnomAD-4.0.0 1.20032E-06
29246 10 V/A 12 None 0.2598 None gnomAD-4.0.0 1.59115E-06
29246 10 V/F 12 None 0.2598 None gnomAD-4.0.0 1.36837E-06
29246 10 V/I 12 None 0.2598 None gnomAD-4.0.0 1.36837E-06
29246 10 V/L 12 rs778562367 0.2598 None gnomAD-2.1.1 8.05E-06
29246 10 V/L 12 rs778562367 0.2598 None gnomAD-4.0.0 1.36837E-06
29249 13 V/I 15 None 0.2597 None gnomAD-4.0.0 1.59113E-06
29251 15 R/Q 17 rs373830762 0.5256 None gnomAD-4.0.0 4.10512E-06
29252 16 E/K 18 rs1164269030 0.7110 None gnomAD-2.1.1 3.18E-05
29252 16 E/K 18 rs1164269030 0.7110 None gnomAD-3.1.2 6.57E-06
29252 16 E/K 18 rs1164269030 0.7110 None gnomAD-4.0.0 1.85895E-06
29252 16 E/Q 18 rs1164269030 0.7110 None gnomAD-3.1.2 1.31E-05
29252 16 E/Q 18 rs1164269030 0.7110 None gnomAD-4.0.0 3.09825E-06
29253 17 S/N 19 rs757300589 0.1638 None gnomAD-2.1.1 2.01E-05
29253 17 S/N 19 rs757300589 0.1638 None gnomAD-3.1.2 6.57E-05
29253 17 S/N 19 rs757300589 0.1638 None gnomAD-4.0.0 2.54058E-05
29254 18 I/F 20 None 0.0821 None gnomAD-4.0.0 1.20032E-06
29254 18 I/T 20 rs868383233 0.0821 None gnomAD-3.1.2 6.57E-06
29254 18 I/T 20 rs868383233 0.0821 None gnomAD-4.0.0 8.05539E-06
29255 19 T/I 21 None 0.2247 None gnomAD-4.0.0 6.84179E-07
29255 19 T/S 21 None 0.2247 None gnomAD-4.0.0 6.84179E-07
29259 23 H/Q 25 None 0.5561 None gnomAD-4.0.0 6.84178E-07
29261 25 P/T 27 None 0.1707 None gnomAD-4.0.0 1.59108E-06
29262 26 V/A 28 rs1053653300 1.1693 None gnomAD-2.1.1 8.04E-06
29262 26 V/A 28 rs1053653300 1.1693 None gnomAD-4.0.0 2.73669E-06
29262 26 V/G 28 rs1053653300 1.1693 None gnomAD-2.1.1 4.02E-06
29262 26 V/G 28 rs1053653300 1.1693 None gnomAD-3.1.2 2.63E-05
29262 26 V/G 28 rs1053653300 1.1693 None gnomAD-4.0.0 4.95732E-06
29262 26 V/L 28 rs1466272644 1.1693 None gnomAD-2.1.1 8.04E-06
29262 26 V/L 28 rs1466272644 1.1693 None gnomAD-3.1.2 4.6E-05
29262 26 V/L 28 rs1466272644 1.1693 None gnomAD-4.0.0 5.57685E-06
29262 26 V/M 28 None 1.1693 None gnomAD-4.0.0 6.84174E-07
29263 27 S/P 29 None 0.4614 None gnomAD-4.0.0 1.20032E-06
29264 28 N/K 30 None 0.3958 None gnomAD-4.0.0 6.84173E-07
29265 29 G/E 31 None 0.4473 None gnomAD-4.0.0 1.59107E-06
29266 30 G/S 32 rs936504137 0.6684 None gnomAD-4.0.0 1.59106E-06
29267 31 S/I 33 None 0.3160 None gnomAD-4.0.0 1.20032E-06
29268 32 A/T 34 None 0.5661 None gnomAD-4.0.0 1.20032E-06
29269 33 V/A 35 None 0.2303 None gnomAD-4.0.0 1.36834E-06
29269 33 V/I 35 rs727503551 0.2303 None gnomAD-2.1.1 3.22E-05
29269 33 V/I 35 rs727503551 0.2303 None gnomAD-3.1.2 3.28E-05
29269 33 V/I 35 rs727503551 0.2303 None gnomAD-4.0.0 2.97405E-05
29270 34 V/I 36 rs141624266 0.4203 None gnomAD-2.1.1 4.02322E-03
29270 34 V/I 36 rs141624266 0.4203 None gnomAD-3.1.2 3.13473E-03
29270 34 V/I 36 rs141624266 0.4203 None 1000 genomes 2.59585E-03
29270 34 V/I 36 rs141624266 0.4203 None gnomAD-4.0.0 2.95804E-03
29271 35 G/A 37 rs1201375858 0.1061 None gnomAD-2.1.1 4.02E-06
29271 35 G/A 37 rs1201375858 0.1061 None gnomAD-4.0.0 3.1821E-06
29271 35 G/R 37 None 0.1061 None gnomAD-4.0.0 6.84167E-07
29271 35 G/S 37 None 0.1061 None gnomAD-4.0.0 6.84167E-07
29272 36 Y/C 38 rs886039083 0.0990 None gnomAD-2.1.1 8.04E-06
29272 36 Y/C 38 rs886039083 0.0990 None gnomAD-3.1.2 2.63E-05
29272 36 Y/C 38 rs886039083 0.0990 None gnomAD-4.0.0 1.11534E-05
29273 37 H/D 39 None 0.2202 None gnomAD-4.0.0 1.20032E-06
29273 37 H/Q 39 None 0.2202 None gnomAD-4.0.0 1.20032E-06
29273 37 H/R 39 rs1218145435 0.2202 None gnomAD-2.1.1 4.02E-06
29273 37 H/R 39 rs1218145435 0.2202 None gnomAD-4.0.0 3.18205E-06
29275 39 E/Q 41 rs766410679 0.1227 None gnomAD-2.1.1 4.02E-06
29276 40 M/V 42 None 0.1352 None gnomAD-4.0.0 1.20032E-06
29277 41 K/N 43 None 0.0932 None gnomAD-4.0.0 1.20032E-06
29279 43 R/K 50 None 0.5544 None gnomAD-4.0.0 6.84164E-07
29279 43 R/S 50 rs184963961 0.5544 None gnomAD-2.1.1 4.02E-06
29279 43 R/T 50 rs773541746 0.5544 None gnomAD-2.1.1 8.04E-06
29279 43 R/T 50 rs773541746 0.5544 None gnomAD-4.0.0 6.15748E-06
29280 44 N/K 54 rs762015851 0.7454 None gnomAD-2.1.1 6.37E-05
29280 44 N/K 54 rs762015851 0.7454 None gnomAD-3.1.2 1.97E-05
29280 44 N/K 54 rs762015851 0.7454 None gnomAD-4.0.0 1.97034E-05
29281 45 S/G 60 None 0.2115 None gnomAD-4.0.0 1.36831E-06
29282 46 I/V 63 rs1396385719 0.9434 None gnomAD-2.1.1 4.02E-06
29284 48 W/R 65 rs771918759 0.2407 None gnomAD-2.1.1 4.02E-06
29284 48 W/R 65 rs771918759 0.2407 None gnomAD-4.0.0 3.18199E-06
29286 50 K/N 67 None 0.3483 None gnomAD-4.0.0 3.18197E-06
29288 52 N/K 69 None 0.1324 None gnomAD-4.0.0 1.59097E-06
29290 54 L/P 72 None 1.0116 None gnomAD-4.0.0 6.00161E-06
29292 56 I/T 77 None 0.0769 None gnomAD-4.0.0 1.20032E-06
29292 56 I/V 77 rs1445509592 0.0769 None gnomAD-3.1.2 6.57E-06
29292 56 I/V 77 rs1445509592 0.0769 None gnomAD-4.0.0 2.56162E-06
29293 57 R/C 83 rs191482653 0.8834 None gnomAD-2.1.1 1.92691E-03
29293 57 R/C 83 rs191482653 0.8834 None gnomAD-3.1.2 7.49389E-04
29293 57 R/C 83 rs191482653 0.8834 None 1000 genomes 3.19489E-03
29293 57 R/C 83 rs191482653 0.8834 Other
Literature None
29293 57 R/C 83 rs191482653 0.8834 None gnomAD-4.0.0 6.71047E-04
29293 57 R/H 83 rs202001776 0.8834 None gnomAD-2.1.1 7.14E-05
29293 57 R/H 83 rs202001776 0.8834 None gnomAD-3.1.2 1.57752E-04
29293 57 R/H 83 rs202001776 0.8834 None gnomAD-4.0.0 3.90384E-05
29294 58 T/I 88 None 0.3989 None gnomAD-4.0.0 6.84156E-07
29294 58 T/K 88 None 0.3989 None gnomAD-4.0.0 6.84156E-07
29295 59 T/S 89 None 0.3112 None gnomAD-4.0.0 1.20032E-06
29296 60 H/D 90 rs1304860683 0.5208 None gnomAD-3.1.2 6.57E-06
29296 60 H/D 90 rs1304860683 0.5208 None gnomAD-4.0.0 3.09821E-06
29296 60 H/Y 90 None 0.5208 None gnomAD-4.0.0 6.84157E-07
29297 61 F/L 91 rs755953829 0.2375 None gnomAD-2.1.1 8.04E-06
29297 61 F/L 91 rs755953829 0.2375 None gnomAD-4.0.0 3.18195E-06
29297 61 F/Y 91 rs373621460 0.2375 None gnomAD-2.1.1 4.02E-06
29297 61 F/Y 91 rs373621460 0.2375 None gnomAD-4.0.0 1.59098E-06
29299 63 V/A 93 rs1001499509 0.1113 None gnomAD-4.0.0 1.59097E-06
29300 64 T/K 94 rs1428308872 0.5325 None gnomAD-2.1.1 4.02E-06
29300 64 T/K 94 rs1428308872 0.5325 None gnomAD-3.1.2 6.57E-06
29300 64 T/K 94 rs1428308872 0.5325 None gnomAD-4.0.0 1.0247E-05
29301 65 T/I 96 None 0.7159 None gnomAD-4.0.0 1.36832E-06
29301 65 T/K 96 rs780957474 0.7159 None gnomAD-2.1.1 4.02E-06
29301 65 T/K 96 rs780957474 0.7159 None gnomAD-4.0.0 6.8416E-07
29303 67 S/G 98 rs72648231 0.4465 None gnomAD-3.1.2 6.57E-06
29303 67 S/G 98 rs72648231 0.4465 DCM
Literature None
29303 67 S/G 98 rs72648231 0.4465 None gnomAD-4.0.0 7.68472E-06
29303 67 S/I 98 rs1190785295 0.4465 None gnomAD-2.1.1 8.04E-06
29303 67 S/I 98 rs1190785295 0.4465 None gnomAD-3.1.2 6.57E-06
29303 67 S/I 98 rs1190785295 0.4465 None gnomAD-4.0.0 6.40425E-06
29304 68 A/P 99 rs571668367 0.4650 None gnomAD-2.1.1 4.02E-06
29304 68 A/P 99 rs571668367 0.4650 None gnomAD-3.1.2 6.57E-06
29304 68 A/P 99 rs571668367 0.4650 None 1000 genomes 1.99681E-04
29304 68 A/P 99 rs571668367 0.4650 None gnomAD-4.0.0 1.23919E-06
29304 68 A/T 99 rs571668367 0.4650 None gnomAD-2.1.1 3.18E-05
29304 68 A/T 99 rs571668367 0.4650 None gnomAD-4.0.0 2.05247E-06
29304 68 A/V 99 None 0.4650 None gnomAD-4.0.0 1.20032E-06
29305 69 G/A 100 None 0.3628 None gnomAD-4.0.0 1.59101E-06
29305 69 G/E 100 rs1211878996 0.3628 None gnomAD-2.1.1 4.02E-06
29305 69 G/E 100 rs1211878996 0.3628 None gnomAD-4.0.0 4.77304E-06
29305 69 G/R 100 rs1272677805 0.3628 None gnomAD-2.1.1 4.02E-06
29305 69 G/R 100 rs1272677805 0.3628 None gnomAD-4.0.0 6.84163E-07
29306 70 L/F 102 rs551887772 0.3808 None 1000 genomes 1.99681E-04
29306 70 L/V 102 None 0.3808 None gnomAD-4.0.0 1.59101E-06
29307 71 I/F 103 None 0.2927 None gnomAD-4.0.0 1.20032E-06
29307 71 I/T 103 rs1332665618 0.2927 None gnomAD-2.1.1 4.02E-06
29307 71 I/T 103 rs1332665618 0.2927 None gnomAD-4.0.0 3.182E-06
29308 72 Y/C 104 None 0.1193 None gnomAD-4.0.0 2.40065E-06
29309 73 E/G 105 rs1208405934 0.1775 None gnomAD-3.1.2 6.57E-06
29309 73 E/G 105 rs1208405934 0.1775 None gnomAD-4.0.0 6.5703E-06
29311 75 R/W 107 rs1245349093 0.1225 None gnomAD-2.1.1 4.02E-06
29311 75 R/W 107 rs1245349093 0.1225 None gnomAD-4.0.0 1.591E-06
29312 76 V/E 108 rs1436898678 0.0599 None gnomAD-2.1.1 4.02E-06
29312 76 V/E 108 rs1436898678 0.0599 None gnomAD-4.0.0 1.59102E-06
29312 76 V/M 108 rs751754225 0.0599 None gnomAD-2.1.1 4.02E-06
29312 76 V/M 108 rs751754225 0.0599 None gnomAD-4.0.0 3.18203E-06
29313 77 Y/F 109 None 0.1585 None gnomAD-4.0.0 6.84166E-07
29314 78 A/E 110 None 0.0944 None gnomAD-4.0.0 1.59107E-06
29314 78 A/T 110 rs923029692 0.0944 None gnomAD-2.1.1 8.04E-06
29314 78 A/T 110 rs923029692 0.0944 None gnomAD-3.1.2 1.97E-05
29314 78 A/T 110 rs923029692 0.0944 None gnomAD-4.0.0 7.6851E-06
29315 79 E/Q 111 None 0.2498 None gnomAD-4.0.0 1.59107E-06
29315 79 E/V 111 None 0.2498 None gnomAD-4.0.0 1.59105E-06
29316 80 N/S 112 rs2154155539 0.1121 None gnomAD-3.1.2 6.57E-06
29316 80 N/S 112 rs2154155539 0.1121 None gnomAD-4.0.0 6.56349E-06
29317 81 A/G 113 rs528557883 0.6726 None gnomAD-2.1.1 4.02E-06
29317 81 A/G 113 rs528557883 0.6726 None gnomAD-3.1.2 6.57E-06
29317 81 A/G 113 rs528557883 0.6726 None 1000 genomes 1.99681E-04
29317 81 A/G 113 rs528557883 0.6726 None gnomAD-4.0.0 6.56556E-06
29317 81 A/T 113 None 0.6726 None gnomAD-4.0.0 1.20032E-06
29318 82 A/P 114 None 0.4985 None gnomAD-4.0.0 1.20032E-06
29319 83 G/E 115 rs750942235 0.1978 None gnomAD-2.1.1 4.02E-06
29319 83 G/E 115 rs750942235 0.1978 None gnomAD-4.0.0 1.36836E-06
29320 84 V/I 117 rs765724248 0.3528 None gnomAD-2.1.1 2.01E-05
29320 84 V/I 117 rs765724248 0.3528 None gnomAD-3.1.2 6.57E-06
29320 84 V/I 117 rs765724248 0.3528 None gnomAD-4.0.0 1.11535E-05
29323 87 P/S 120 rs1371741615 0.2533 None gnomAD-2.1.1 4.02E-06
29323 87 P/S 120 rs1371741615 0.2533 None gnomAD-4.0.0 1.59113E-06
29326 90 P/R 123 rs1450387071 0.3745 None gnomAD-2.1.1 4.02E-06
29326 90 P/R 123 rs1450387071 0.3745 None gnomAD-4.0.0 3.18235E-06
29326 90 P/S 123 rs1190882464 0.3745 None gnomAD-2.1.1 4.02E-06
29326 90 P/S 123 rs1190882464 0.3745 None gnomAD-4.0.0 2.40064E-06
29327 91 S/P 124 rs369714676 0.1370 None gnomAD-4.0.0 1.59115E-06
29329 93 P/A 126 None 0.3922 None gnomAD-4.0.0 6.84196E-07
29329 93 P/L 126 rs777177198 0.3922 None gnomAD-2.1.1 4.03E-06
29329 93 P/L 126 rs777177198 0.3922 None gnomAD-4.0.0 2.73678E-06
29329 93 P/S 126 rs376054748 0.3922 None gnomAD-3.1.2 6.57E-06
29329 93 P/S 126 rs376054748 0.3922 None gnomAD-4.0.0 6.57134E-06
29329 93 P/T 126 None 0.3922 None gnomAD-4.0.0 6.84196E-07
29330 94 V/A 127 rs1701877919 0.2029 None gnomAD-4.0.0 4.80129E-06
29331 95 L/M 129 None 0.3654 None gnomAD-4.0.0 1.3684E-06
29332 96 A/V 130 None 0.0845 None gnomAD-4.0.0 1.20032E-06
29333 97 I/L 131 rs1701876010 0.3809 None gnomAD-3.1.2 6.57E-06
29333 97 I/L 131 rs1701876010 0.3809 None gnomAD-4.0.0 6.5703E-06
29333 97 I/T 131 rs764532002 0.3809 None gnomAD-2.1.1 1.21E-05
29333 97 I/T 131 rs764532002 0.3809 None gnomAD-3.1.2 6.57E-06
29333 97 I/T 131 rs764532002 0.3809 None gnomAD-4.0.0 1.23934E-05
29333 97 I/V 131 rs1701876010 0.3809 None gnomAD-4.0.0 4.78942E-06