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

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
29238 2 P/S 2 rs1701983890 0.1655 None gnomAD-4.0.0 1.20035E-06
29240 4 P/S 4 None 0.4807 None gnomAD-4.0.0 1.20033E-06
29240 4 P/T 4 None 0.4807 None gnomAD-4.0.0 3.60098E-06
29242 6 S/T 6 rs1416855828 0.2163 None gnomAD-3.1.2 6.57E-06
29242 6 S/T 6 rs1416855828 0.2163 None gnomAD-4.0.0 2.02983E-06
29243 7 T/I 7 rs1559256317 0.3779 None gnomAD-2.1.1 8.05E-06
29243 7 T/I 7 rs1559256317 0.3779 None gnomAD-4.0.0 3.18227E-06
29244 8 P/A 9 rs779810701 0.1416 None gnomAD-2.1.1 4.02E-06
29244 8 P/A 9 rs779810701 0.1416 None gnomAD-3.1.2 1.31E-05
29244 8 P/A 9 rs779810701 0.1416 None gnomAD-4.0.0 1.31306E-05
29244 8 P/S 9 rs779810701 0.1416 None gnomAD-2.1.1 1.21E-05
29244 8 P/S 9 rs779810701 0.1416 None gnomAD-3.1.2 6.57E-06
29244 8 P/S 9 rs779810701 0.1416 None gnomAD-4.0.0 4.33763E-06
29245 9 W/C 11 rs745430117 0.3452 None gnomAD-2.1.1 4.02E-06
29245 9 W/C 11 rs745430117 0.3452 None gnomAD-4.0.0 1.59116E-06
29245 9 W/G 11 None 0.3452 None gnomAD-4.0.0 4.80129E-06
29245 9 W/R 11 rs771722716 0.3452 None gnomAD-2.1.1 4.02E-06
29245 9 W/R 11 rs771722716 0.3452 None gnomAD-4.0.0 1.20032E-06
29246 10 V/A 12 None 0.2683 None gnomAD-4.0.0 1.59115E-06
29246 10 V/F 12 None 0.2683 None gnomAD-4.0.0 1.36837E-06
29246 10 V/I 12 None 0.2683 None gnomAD-4.0.0 1.36837E-06
29246 10 V/L 12 rs778562367 0.2683 None gnomAD-2.1.1 8.05E-06
29246 10 V/L 12 rs778562367 0.2683 None gnomAD-4.0.0 1.36837E-06
29249 13 V/I 15 None 0.2240 None gnomAD-4.0.0 1.59113E-06
29251 15 R/Q 17 rs373830762 0.5437 None gnomAD-4.0.0 4.10512E-06
29252 16 E/K 18 rs1164269030 0.7184 None gnomAD-2.1.1 3.18E-05
29252 16 E/K 18 rs1164269030 0.7184 None gnomAD-3.1.2 6.57E-06
29252 16 E/K 18 rs1164269030 0.7184 None gnomAD-4.0.0 1.85895E-06
29252 16 E/Q 18 rs1164269030 0.7184 None gnomAD-3.1.2 1.31E-05
29252 16 E/Q 18 rs1164269030 0.7184 None gnomAD-4.0.0 3.09825E-06
29253 17 S/N 19 rs757300589 0.1688 None gnomAD-2.1.1 2.01E-05
29253 17 S/N 19 rs757300589 0.1688 None gnomAD-3.1.2 6.57E-05
29253 17 S/N 19 rs757300589 0.1688 None gnomAD-4.0.0 2.54058E-05
29254 18 I/F 20 None 0.0943 None gnomAD-4.0.0 1.20032E-06
29254 18 I/T 20 rs868383233 0.0943 None gnomAD-3.1.2 6.57E-06
29254 18 I/T 20 rs868383233 0.0943 None gnomAD-4.0.0 8.05539E-06
29255 19 T/I 21 None 0.2225 None gnomAD-4.0.0 6.84179E-07
29255 19 T/S 21 None 0.2225 None gnomAD-4.0.0 6.84179E-07
29259 23 H/Q 25 None 0.5447 None gnomAD-4.0.0 6.84178E-07
29261 25 P/T 27 None 0.1832 None gnomAD-4.0.0 1.59108E-06
29262 26 V/A 28 rs1053653300 1.1585 None gnomAD-2.1.1 8.04E-06
29262 26 V/A 28 rs1053653300 1.1585 None gnomAD-4.0.0 2.73669E-06
29262 26 V/G 28 rs1053653300 1.1585 None gnomAD-2.1.1 4.02E-06
29262 26 V/G 28 rs1053653300 1.1585 None gnomAD-3.1.2 2.63E-05
29262 26 V/G 28 rs1053653300 1.1585 None gnomAD-4.0.0 4.95732E-06
29262 26 V/L 28 rs1466272644 1.1585 None gnomAD-2.1.1 8.04E-06
29262 26 V/L 28 rs1466272644 1.1585 None gnomAD-3.1.2 4.6E-05
29262 26 V/L 28 rs1466272644 1.1585 None gnomAD-4.0.0 5.57685E-06
29262 26 V/M 28 None 1.1585 None gnomAD-4.0.0 6.84174E-07
29263 27 S/P 29 None 0.4883 None gnomAD-4.0.0 1.20032E-06
29264 28 N/K 30 None 0.4123 None gnomAD-4.0.0 6.84173E-07
29265 29 G/E 31 None 0.1630 None gnomAD-4.0.0 1.59107E-06
29266 30 G/S 32 rs936504137 0.3764 None gnomAD-4.0.0 1.59106E-06
29267 31 S/I 33 None 0.1825 None gnomAD-4.0.0 1.20032E-06
29268 32 A/T 34 None 0.5885 None gnomAD-4.0.0 1.20032E-06
29269 33 V/A 35 None 0.2392 None gnomAD-4.0.0 1.36834E-06
29269 33 V/I 35 rs727503551 0.2392 None gnomAD-2.1.1 3.22E-05
29269 33 V/I 35 rs727503551 0.2392 None gnomAD-3.1.2 3.28E-05
29269 33 V/I 35 rs727503551 0.2392 None gnomAD-4.0.0 2.97405E-05
29270 34 V/I 36 rs141624266 0.5300 None gnomAD-2.1.1 4.02322E-03
29270 34 V/I 36 rs141624266 0.5300 None gnomAD-3.1.2 3.13473E-03
29270 34 V/I 36 rs141624266 0.5300 None 1000 genomes 2.59585E-03
29270 34 V/I 36 rs141624266 0.5300 None gnomAD-4.0.0 2.95804E-03
29271 35 G/A 37 rs1201375858 0.1045 None gnomAD-2.1.1 4.02E-06
29271 35 G/A 37 rs1201375858 0.1045 None gnomAD-4.0.0 3.1821E-06
29271 35 G/R 37 None 0.1045 None gnomAD-4.0.0 6.84167E-07
29271 35 G/S 37 None 0.1045 None gnomAD-4.0.0 6.84167E-07
29272 36 Y/C 38 rs886039083 0.1143 None gnomAD-2.1.1 8.04E-06
29272 36 Y/C 38 rs886039083 0.1143 None gnomAD-3.1.2 2.63E-05
29272 36 Y/C 38 rs886039083 0.1143 None gnomAD-4.0.0 1.11534E-05
29273 37 H/D 39 None 0.2474 None gnomAD-4.0.0 1.20032E-06
29273 37 H/Q 39 None 0.2474 None gnomAD-4.0.0 1.20032E-06
29273 37 H/R 39 rs1218145435 0.2474 None gnomAD-2.1.1 4.02E-06
29273 37 H/R 39 rs1218145435 0.2474 None gnomAD-4.0.0 3.18205E-06
29275 39 E/Q 41 rs766410679 0.1441 None gnomAD-2.1.1 4.02E-06
29276 40 M/V 42 None 0.1417 None gnomAD-4.0.0 1.20032E-06
29277 41 K/N 43 None 0.1216 None gnomAD-4.0.0 1.20032E-06
29279 43 R/K 50 None 0.6015 None gnomAD-4.0.0 6.84164E-07
29279 43 R/S 50 rs184963961 0.6015 None gnomAD-2.1.1 4.02E-06
29279 43 R/T 50 rs773541746 0.6015 None gnomAD-2.1.1 8.04E-06
29279 43 R/T 50 rs773541746 0.6015 None gnomAD-4.0.0 6.15748E-06
29280 44 N/K 54 rs762015851 0.7971 None gnomAD-2.1.1 6.37E-05
29280 44 N/K 54 rs762015851 0.7971 None gnomAD-3.1.2 1.97E-05
29280 44 N/K 54 rs762015851 0.7971 None gnomAD-4.0.0 1.97034E-05
29281 45 S/G 60 None 0.2497 None gnomAD-4.0.0 1.36831E-06
29282 46 I/V 63 rs1396385719 0.9570 None gnomAD-2.1.1 4.02E-06
29284 48 W/R 65 rs771918759 0.2794 None gnomAD-2.1.1 4.02E-06
29284 48 W/R 65 rs771918759 0.2794 None gnomAD-4.0.0 3.18199E-06
29286 50 K/N 67 None 0.3606 None gnomAD-4.0.0 3.18197E-06
29288 52 N/K 69 None 0.1467 None gnomAD-4.0.0 1.59097E-06
29290 54 L/P 72 None 1.0134 None gnomAD-4.0.0 6.00161E-06
29292 56 I/T 77 None 0.0785 None gnomAD-4.0.0 1.20032E-06
29292 56 I/V 77 rs1445509592 0.0785 None gnomAD-3.1.2 6.57E-06
29292 56 I/V 77 rs1445509592 0.0785 None gnomAD-4.0.0 2.56162E-06
29293 57 R/C 83 rs191482653 0.8830 None gnomAD-2.1.1 1.92691E-03
29293 57 R/C 83 rs191482653 0.8830 None gnomAD-3.1.2 7.49389E-04
29293 57 R/C 83 rs191482653 0.8830 None 1000 genomes 3.19489E-03
29293 57 R/C 83 rs191482653 0.8830 Other
Literature None
29293 57 R/C 83 rs191482653 0.8830 None gnomAD-4.0.0 6.71047E-04
29293 57 R/H 83 rs202001776 0.8830 None gnomAD-2.1.1 7.14E-05
29293 57 R/H 83 rs202001776 0.8830 None gnomAD-3.1.2 1.57752E-04
29293 57 R/H 83 rs202001776 0.8830 None gnomAD-4.0.0 3.90384E-05
29294 58 T/I 88 None 0.4004 None gnomAD-4.0.0 6.84156E-07
29294 58 T/K 88 None 0.4004 None gnomAD-4.0.0 6.84156E-07
29295 59 T/S 89 None 0.2997 None gnomAD-4.0.0 1.20032E-06
29296 60 H/D 90 rs1304860683 0.5090 None gnomAD-3.1.2 6.57E-06
29296 60 H/D 90 rs1304860683 0.5090 None gnomAD-4.0.0 3.09821E-06
29296 60 H/Y 90 None 0.5090 None gnomAD-4.0.0 6.84157E-07
29297 61 F/L 91 rs755953829 0.2483 None gnomAD-2.1.1 8.04E-06
29297 61 F/L 91 rs755953829 0.2483 None gnomAD-4.0.0 3.18195E-06
29297 61 F/Y 91 rs373621460 0.2483 None gnomAD-2.1.1 4.02E-06
29297 61 F/Y 91 rs373621460 0.2483 None gnomAD-4.0.0 1.59098E-06
29299 63 V/A 93 rs1001499509 0.1216 None gnomAD-4.0.0 1.59097E-06
29300 64 T/K 94 rs1428308872 0.5416 None gnomAD-2.1.1 4.02E-06
29300 64 T/K 94 rs1428308872 0.5416 None gnomAD-3.1.2 6.57E-06
29300 64 T/K 94 rs1428308872 0.5416 None gnomAD-4.0.0 1.0247E-05
29301 65 T/I 96 None 0.7529 None gnomAD-4.0.0 1.36832E-06
29301 65 T/K 96 rs780957474 0.7529 None gnomAD-2.1.1 4.02E-06
29301 65 T/K 96 rs780957474 0.7529 None gnomAD-4.0.0 6.8416E-07
29303 67 S/G 98 rs72648231 0.4757 None gnomAD-3.1.2 6.57E-06
29303 67 S/G 98 rs72648231 0.4757 DCM
Literature None
29303 67 S/G 98 rs72648231 0.4757 None gnomAD-4.0.0 7.68472E-06
29303 67 S/I 98 rs1190785295 0.4757 None gnomAD-2.1.1 8.04E-06
29303 67 S/I 98 rs1190785295 0.4757 None gnomAD-3.1.2 6.57E-06
29303 67 S/I 98 rs1190785295 0.4757 None gnomAD-4.0.0 6.40425E-06
29304 68 A/P 99 rs571668367 0.4976 None gnomAD-2.1.1 4.02E-06
29304 68 A/P 99 rs571668367 0.4976 None gnomAD-3.1.2 6.57E-06
29304 68 A/P 99 rs571668367 0.4976 None 1000 genomes 1.99681E-04
29304 68 A/P 99 rs571668367 0.4976 None gnomAD-4.0.0 1.23919E-06
29304 68 A/T 99 rs571668367 0.4976 None gnomAD-2.1.1 3.18E-05
29304 68 A/T 99 rs571668367 0.4976 None gnomAD-4.0.0 2.05247E-06
29304 68 A/V 99 None 0.4976 None gnomAD-4.0.0 1.20032E-06
29305 69 G/A 100 None 0.3978 None gnomAD-4.0.0 1.59101E-06
29305 69 G/E 100 rs1211878996 0.3978 None gnomAD-2.1.1 4.02E-06
29305 69 G/E 100 rs1211878996 0.3978 None gnomAD-4.0.0 4.77304E-06
29305 69 G/R 100 rs1272677805 0.3978 None gnomAD-2.1.1 4.02E-06
29305 69 G/R 100 rs1272677805 0.3978 None gnomAD-4.0.0 6.84163E-07
29306 70 L/F 102 rs551887772 0.4171 None 1000 genomes 1.99681E-04
29306 70 L/V 102 None 0.4171 None gnomAD-4.0.0 1.59101E-06
29307 71 I/F 103 None 0.3218 None gnomAD-4.0.0 1.20032E-06
29307 71 I/T 103 rs1332665618 0.3218 None gnomAD-2.1.1 4.02E-06
29307 71 I/T 103 rs1332665618 0.3218 None gnomAD-4.0.0 3.182E-06
29308 72 Y/C 104 None 0.1443 None gnomAD-4.0.0 2.40065E-06
29309 73 E/G 105 rs1208405934 0.2313 None gnomAD-3.1.2 6.57E-06
29309 73 E/G 105 rs1208405934 0.2313 None gnomAD-4.0.0 6.5703E-06
29311 75 R/W 107 rs1245349093 0.1605 None gnomAD-2.1.1 4.02E-06
29311 75 R/W 107 rs1245349093 0.1605 None gnomAD-4.0.0 1.591E-06
29312 76 V/E 108 rs1436898678 0.0712 None gnomAD-2.1.1 4.02E-06
29312 76 V/E 108 rs1436898678 0.0712 None gnomAD-4.0.0 1.59102E-06
29312 76 V/M 108 rs751754225 0.0712 None gnomAD-2.1.1 4.02E-06
29312 76 V/M 108 rs751754225 0.0712 None gnomAD-4.0.0 3.18203E-06
29313 77 Y/F 109 None 0.2159 None gnomAD-4.0.0 6.84166E-07
29314 78 A/E 110 None 0.1172 None gnomAD-4.0.0 1.59107E-06
29314 78 A/T 110 rs923029692 0.1172 None gnomAD-2.1.1 8.04E-06
29314 78 A/T 110 rs923029692 0.1172 None gnomAD-3.1.2 1.97E-05
29314 78 A/T 110 rs923029692 0.1172 None gnomAD-4.0.0 7.6851E-06
29315 79 E/Q 111 None 0.2832 None gnomAD-4.0.0 1.59107E-06
29315 79 E/V 111 None 0.2832 None gnomAD-4.0.0 1.59105E-06
29316 80 N/S 112 rs2154155539 0.1001 None gnomAD-3.1.2 6.57E-06
29316 80 N/S 112 rs2154155539 0.1001 None gnomAD-4.0.0 6.56349E-06
29317 81 A/G 113 rs528557883 0.4546 None gnomAD-2.1.1 4.02E-06
29317 81 A/G 113 rs528557883 0.4546 None gnomAD-3.1.2 6.57E-06
29317 81 A/G 113 rs528557883 0.4546 None 1000 genomes 1.99681E-04
29317 81 A/G 113 rs528557883 0.4546 None gnomAD-4.0.0 6.56556E-06
29317 81 A/T 113 None 0.4546 None gnomAD-4.0.0 1.20032E-06
29318 82 A/P 114 None 0.3331 None gnomAD-4.0.0 1.20032E-06
29319 83 G/E 115 rs750942235 0.2187 None gnomAD-2.1.1 4.02E-06
29319 83 G/E 115 rs750942235 0.2187 None gnomAD-4.0.0 1.36836E-06
29320 84 V/I 117 rs765724248 0.4562 None gnomAD-2.1.1 2.01E-05
29320 84 V/I 117 rs765724248 0.4562 None gnomAD-3.1.2 6.57E-06
29320 84 V/I 117 rs765724248 0.4562 None gnomAD-4.0.0 1.11535E-05
29323 87 P/S 120 rs1371741615 0.3280 None gnomAD-2.1.1 4.02E-06
29323 87 P/S 120 rs1371741615 0.3280 None gnomAD-4.0.0 1.59113E-06
29326 90 P/R 123 rs1450387071 0.4387 None gnomAD-2.1.1 4.02E-06
29326 90 P/R 123 rs1450387071 0.4387 None gnomAD-4.0.0 3.18235E-06
29326 90 P/S 123 rs1190882464 0.4387 None gnomAD-2.1.1 4.02E-06
29326 90 P/S 123 rs1190882464 0.4387 None gnomAD-4.0.0 2.40064E-06
29327 91 S/P 124 rs369714676 0.1549 None gnomAD-4.0.0 1.59115E-06
29329 93 P/A 126 None 0.4260 None gnomAD-4.0.0 6.84196E-07
29329 93 P/L 126 rs777177198 0.4260 None gnomAD-2.1.1 4.03E-06
29329 93 P/L 126 rs777177198 0.4260 None gnomAD-4.0.0 2.73678E-06
29329 93 P/S 126 rs376054748 0.4260 None gnomAD-3.1.2 6.57E-06
29329 93 P/S 126 rs376054748 0.4260 None gnomAD-4.0.0 6.57134E-06
29329 93 P/T 126 None 0.4260 None gnomAD-4.0.0 6.84196E-07
29330 94 V/A 127 rs1701877919 0.2222 None gnomAD-4.0.0 4.80129E-06
29331 95 L/M 129 None 0.4212 None gnomAD-4.0.0 1.3684E-06
29332 96 A/V 130 None 0.1064 None gnomAD-4.0.0 1.20032E-06
29333 97 I/L 131 rs1701876010 0.4835 None gnomAD-3.1.2 6.57E-06
29333 97 I/L 131 rs1701876010 0.4835 None gnomAD-4.0.0 6.5703E-06
29333 97 I/T 131 rs764532002 0.4835 None gnomAD-2.1.1 1.21E-05
29333 97 I/T 131 rs764532002 0.4835 None gnomAD-3.1.2 6.57E-06
29333 97 I/T 131 rs764532002 0.4835 None gnomAD-4.0.0 1.23934E-05
29333 97 I/V 131 rs1701876010 0.4835 None gnomAD-4.0.0 4.78942E-06