BRD3 (Bromodomain-containing protein 3) variants and mutations
BRD3 (also known as Bromodomain-containing protein 3) is a human protein-coding gene encoding a bromodomain-containing protein 3 protein. It binds acetylated histones and transcription factors to help organize active chromatin and gene expression. Rearrangements involving BRD3 can create oncogenic fusions in rare cancers, and its bromodomains are targeted by BET inhibitors. This analysis covers 1,132 BRD3 variants and mutations. Of these, 75% have computational variant effect predictions. Disease context includes neoplasm, type 2 diabetes mellitus, and substance-related disorder. Example BRD3 variants include S2P, T3P, and A4S.
Variant analysis overview
- Gene: BRD3
- Protein: Bromodomain-containing protein 3
- UniProt accession: Q15059
- Organism: Homo sapiens
- Variants analyzed: 1132
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 844 unspecified-consequence records; 1 stop retained variant; 1 stop lost; 105 synonymous variants; 9 stop-gained variants; 150 missense variants; 6 in-frame deletions; 3 in-frame insertions; 9 frameshift variants; 2 splice-region variants; 1 protein altering variant; 1 substitution
- Prediction scores: 850 variants have prediction scores (75% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: neoplasm, type 2 diabetes mellitus, substance-related disorder, mathematical ability, neurodegenerative disease, colon adenocarcinoma, cutaneous melanoma, ovarian endometrioid adenocarcinoma with squamous differentiation, colorectal adenocarcinoma, endometrial endometrioid adenocarcinoma, myelofibrosis, Tinnitus.
Protein structure and variant hotspots
- Protein features: 3 domains; 4 post-translational modification sites.
- Structural context: 319 variants have structural context.
- PTM context: 8 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable BRD3 variants
Examples include S2P, T3P, A4S, A4T, T5M, T6I, A8G, A8S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- S2P (p.Ser2Pro), Ensembl rs201567850
- T3P (p.Thr3Pro), Ensembl rs1588293329, REVEL 0.18, CADD 19.60
- A4S (p.Ala4Ser), ExAC rs542011880, TOPMed rs542011880, gnomAD rs542011880, REVEL 0.07, CADD 11.40
- A4T (p.Ala4Thr), ExAC rs542011880, TOPMed rs542011880, gnomAD rs542011880, REVEL 0.09, CADD 7.30
- T5M (p.Thr5Met), cosmic curated COSV57706, ExAC rs201361404, TOPMed rs201361404, gnomAD rs201361404, REVEL 0.18, CADD 21.00
- T6I (p.Thr6Ile), ExAC rs781619343, TOPMed rs781619343, gnomAD rs781619343, REVEL 0.21, CADD 19.70
- A8G (p.Ala8Gly), TOPMed rs1200989820, gnomAD rs1200989820, REVEL 0.12, CADD 21.10
- A8S (p.Ala8Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A8T (p.Ala8Thr), rs778306761, ExAC rs778306761, gnomAD rs778306761, REVEL 0.25, CADD 12.20, Variant assessed as somatic; moderate impact.
- A10E (p.Ala10Glu), ExAC rs201355820, TOPMed rs201355820, gnomAD rs201355820, REVEL 0.11, CADD 21.50, Uncertain significance
- A10S (p.Ala10Ser), 1000Genomes rs199832773, ExAC rs199832773, TOPMed rs199832773, gnomAD rs199832773, REVEL 0.12, CADD 6.57
- A10T (p.Ala10Thr), cosmic curated COSV57707, 1000Genomes rs199832773, ExAC rs199832773, TOPMed rs199832773, REVEL 0.19, CADD 7.35
- A10V (p.Ala10Val), rs201355820, ClinGen CA5317114, cosmic curated COSV10588, ClinVar RCV004434296, REVEL 0.11, CADD 17.70, Uncertain significance, not specified
- G11E (p.Gly11Glu), TOPMed rs202086741, gnomAD rs202086741, REVEL 0.16, CADD 20.30
- G11R (p.Gly11Arg), ExAC rs760301950, gnomAD rs760301950
- I12T (p.Ile12Thr), ExAC rs771882425, gnomAD rs771882425, REVEL 0.17, CADD 20.60
- P13L (p.Pro13Leu), rs370821220, cosmic curated COSV57701, ESP rs370821220, ExAC rs370821220, REVEL 0.11, CADD 23.00, Uncertain significance, not specified
- P13Q (p.Pro13Gln), ESP rs370821220, ExAC rs370821220, TOPMed rs370821220, gnomAD rs370821220, REVEL 0.11, CADD 20.40
- P13S (p.Pro13Ser), cosmic curated COSV57706, TOPMed rs1251506859, gnomAD rs1251506859, REVEL 0.10, CADD 21.80
- A14T (p.Ala14Thr), ExAC rs746025520, gnomAD rs746025520, REVEL 0.12, CADD 19.40
- A14V (p.Ala14Val), cosmic curated COSV10885, 1000Genomes rs368976727, ExAC rs368976727, TOPMed rs368976727, REVEL 0.17, CADD 9.25, Uncertain significance, not specified
- T15P (p.Thr15Pro), Ensembl rs2132433242, REVEL 0.28, CADD 12.70
- P16A (p.Pro16Ala), gnomAD rs1228902602, REVEL 0.17, CADD 19.90
- P16L (p.Pro16Leu), rs200385726, ClinGen CA201053673, ClinVar RCV004225609, ExAC rs200385726, REVEL 0.09, CADD 23.10, Uncertain significance, not specified
- P16Q (p.Pro16Gln), cosmic curated COSV10032, ExAC rs200385726, TOPMed rs200385726, gnomAD rs200385726, Uncertain significance
- P18S (p.Pro18Ser), cosmic curated COSV10514, gnomAD rs201686637, REVEL 0.15, CADD 21.90
- V19L (p.Val19Leu), ESP rs372624324, ExAC rs372624324, TOPMed rs372624324, gnomAD rs372624324, REVEL 0.12, CADD 22.90
- V19M (p.Val19Met), ESP rs372624324, ExAC rs372624324, TOPMed rs372624324, gnomAD rs372624324
- N20D (p.Asn20Asp), Ensembl rs2132433158
- N20H (p.Asn20His), Ensembl rs2132433158
- N20S (p.Asn20Ser), Ensembl rs2132433143
- P21A (p.Pro21Ala), TOPMed rs1451944580, gnomAD rs1451944580, REVEL 0.23, CADD 23.00
- P21T (p.Pro21Thr), TOPMed rs1451944580, gnomAD rs1451944580, REVEL 0.22, CADD 23.30
- P22L (p.Pro22Leu), TOPMed rs1024952396, gnomAD rs1024952396, REVEL 0.27, CADD 26.20
- P22R (p.Pro22Arg), TOPMed rs1024952396, gnomAD rs1024952396, REVEL 0.32, CADD 25.80
- P22S (p.Pro22Ser), cosmic curated COSV57707, TOPMed rs1162049200, gnomAD rs1162049200, REVEL 0.20, CADD 23.10
- P22T (p.Pro22Thr), TOPMed rs1162049200, gnomAD rs1162049200, REVEL 0.23, CADD 23.20
- P23A (p.Pro23Ala), ESP rs144468611, ExAC rs144468611, TOPMed rs144468611, gnomAD rs144468611, REVEL 0.18, CADD 22.60, Uncertain significance, not specified
- P23H (p.Pro23His), rs200460874, NCI-TCGA Cosmic COSV5770, cosmic curated COSV57708, REVEL 0.28, CADD 25.20, Uncertain significance, not specified
- P23L (p.Pro23Leu), rs200460874, NCI-TCGA Cosmic COSV5770, cosmic curated COSV57701, REVEL 0.29, CADD 23.70, Uncertain significance
- P23R (p.Pro23Arg), 1000Genomes rs200460874, ExAC rs200460874, TOPMed rs200460874, gnomAD rs200460874, REVEL 0.27, CADD 25.00, Uncertain significance
- P23S (p.Pro23Ser), ESP rs144468611, ExAC rs144468611, TOPMed rs144468611, gnomAD rs144468611, REVEL 0.21, CADD 23.00
- P23T (p.Pro23Thr), ESP rs144468611, ExAC rs144468611, TOPMed rs144468611, gnomAD rs144468611, REVEL 0.23, CADD 22.90
- P24A (p.Pro24Ala), gnomAD rs1014119699, REVEL 0.26, CADD 24.60
- P24G (p.Pro24Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- P24L (p.Pro24Leu), ExAC rs200923400, TOPMed rs200923400, gnomAD rs200923400, NCI-TCGA TCGA novel, REVEL 0.33, CADD 26.10, Variant assessed as somatic; high impact.
- P24R (p.Pro24Arg), ExAC rs200923400, TOPMed rs200923400, gnomAD rs200923400, REVEL 0.30, CADD 25.70
- P24S (p.Pro24Ser), gnomAD rs1014119699, REVEL 0.26, CADD 25.20
- P24T (p.Pro24Thr), gnomAD rs1014119699, REVEL 0.32, CADD 24.90
- E25G (p.Glu25Gly), cosmic curated COSV10514, ExAC rs778198601, TOPMed rs778198601, gnomAD rs778198601, REVEL 0.26, CADD 28.40
- E25Q (p.Glu25Gln), Ensembl rs2132432972
- E25R (p.Glu25Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- V26D (p.Val26Asp), gnomAD rs769252004
- V26G (p.Val26Gly), cosmic curated COSV10606, gnomAD rs769252004, REVEL 0.21, CADD 23.90
- S27A (p.Ser27Ala), TOPMed rs200017066, gnomAD rs200017066, REVEL 0.09, CADD 20.90
- S27C (p.Ser27Cys), NCI-TCGA TCGA novel, Ensembl rs1830344140, REVEL 0.11, CADD 21.30, Variant assessed as somatic; moderate impact.
- N28H (p.Asn28His), cosmic curated COSV10961, Ensembl rs1588293072, REVEL 0.16, CADD 25.70
- P29S (p.Pro29Ser), 1000Genomes rs576758160, ExAC rs576758160, gnomAD rs576758160, REVEL 0.18, CADD 21.50
- S30N (p.Ser30Asn), NCI-TCGA Cosmic COSV5770, cosmic curated COSV57702, Variant assessed as somatic; moderate impact.
- S30R (p.Ser30Arg), cosmic curated COSV10514, Ensembl rs2132432891, REVEL 0.10, CADD 14.70
- S30T (p.Ser30Thr), Ensembl rs2132432883, REVEL 0.13, CADD 17.40
- K31N (p.Lys31Asn), gnomAD rs1358769749, REVEL 0.14, CADD 23.10
- P32R (p.Pro32Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G33A (p.Gly33Ala), Ensembl rs2132432825
- G33R (p.Gly33Arg), rs201114126, ClinGen CA5317079, ClinVar RCV004107671, ExAC rs201114126, REVEL 0.17, CADD 23.40, Uncertain significance, not specified
- G33S (p.Gly33Ser), ExAC rs201114126, TOPMed rs201114126, gnomAD rs201114126, REVEL 0.17, CADD 24.80, Uncertain significance
- R34C (p.Arg34Cys), ExAC rs200112281, TOPMed rs200112281, gnomAD rs200112281, REVEL 0.29, CADD 24.90
- R34H (p.Arg34His), NCI-TCGA Cosmic COSV5770, cosmic curated COSV57704, TOPMed rs1830343696, REVEL 0.48, CADD 26.60, Variant assessed as somatic; moderate impact.
- R34P (p.Arg34Pro), TOPMed rs1830343696
- T36N (p.Thr36Asn), UniProt VAR 041913, Uncertain significance, in a renal clear cell carcinoma sample
- N37S (p.Asn37Ser), TOPMed rs1322625228, gnomAD rs1322625228, REVEL 0.30, CADD 25.50
- M42I (p.Met42Ile), TOPMed rs1286234747, gnomAD rs1286234747, REVEL 0.39, CADD 25.20
- M42K (p.Met42Lys), ExAC rs755631868, gnomAD rs755631868
- M42T (p.Met42Thr), ExAC rs755631868, gnomAD rs755631868, REVEL 0.58, CADD 25.90
- M42V (p.Met42Val), rs1282240346, NCI-TCGA Cosmic COSV1003, cosmic curated COSV10032, TOPMed rs1282240346, REVEL 0.20, CADD 24.70, Variant assessed as somatic; moderate impact.
- Q43* (p.Gln43Ter), Ensembl rs2132432758
- Q43R (p.Gln43Arg), ExAC rs749918010, TOPMed rs749918010, gnomAD rs749918010, REVEL 0.22, CADD 24.00
- K48N (p.Lys48Asn), TOPMed rs1830342751, gnomAD rs1830342751, REVEL 0.15, CADD 25.30
- T49A (p.Thr49Ala), Ensembl rs1554829563
- T49M (p.Thr49Met), TOPMed rs868747664, gnomAD rs868747664, REVEL 0.31, CADD 27.10, Uncertain significance, not specified
- L50F (p.Leu50Phe), TOPMed rs1830342530
- K52* (p.Lys52Ter), Ensembl rs2132432640
- K52T (p.Lys52Thr), TOPMed rs1830342435, gnomAD rs1830342435, REVEL 0.23, CADD 25.20
- Q54* (p.Gln54Ter), NCI-TCGA Cosmic COSV1003, cosmic curated COSV10032, Variant assessed as somatic; high impact.
- Q54H (p.Gln54His), gnomAD rs1475051820, REVEL 0.17, CADD 19.10
- F55L (p.Phe55Leu), Ensembl rs1830342340, REVEL 0.36, CADD 25.00
- A56S (p.Ala56Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A56T (p.Ala56Thr), rs988329845, cosmic curated COSV10814, TOPMed rs988329845, REVEL 0.37, CADD 25.70, Variant assessed as somatic; moderate impact.
- Y60* (p.Tyr60Ter), TOPMed rs1158316788, gnomAD rs1158316788
- Y60C (p.Tyr60Cys), gnomAD rs1358719319, REVEL 0.35, CADD 28.60
- Q61* (p.Gln61Ter), ExAC rs200638798, gnomAD rs200638798, CADD 39.00
- Q61H (p.Gln61His), TOPMed rs199558079
- P62L (p.Pro62Leu), Ensembl rs2132432537
- V63M (p.Val63Met), gnomAD rs1425881203, REVEL 0.47, CADD 25.70
- A65T (p.Ala65Thr), rs200965087, 1000Genomes rs200965087, ExAC rs200965087, TOPMed rs200965087, REVEL 0.20, CADD 24.90, Uncertain significance, not specified
- L68F (p.Leu68Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L68M (p.Leu68Met), Ensembl rs2132432476
- N69K (p.Asn69Lys), ExAC rs774594958, TOPMed rs774594958, gnomAD rs774594958, REVEL 0.15, CADD 18.50
- N69T (p.Asn69Thr), ExAC rs77118095, gnomAD rs77118095, REVEL 0.18, CADD 23.50
- P71=, rs768904714, NCI-TCGA Cosmic COSV1003, Variant assessed as somatic; low impact.
- P71A (p.Pro71Ala), gnomAD rs1439180366
- P71L (p.Pro71Leu), ESP rs375446595, TOPMed rs375446595, gnomAD rs375446595, REVEL 0.44, CADD 32.00
- P71S (p.Pro71Ser), rs1439180366, gnomAD rs1439180366, REVEL 0.39, CADD 24.90, Variant assessed as somatic; moderate impact.
- H74N (p.His74Asn), TOPMed rs1184480283, REVEL 0.28, CADD 33.00
- H74R (p.His74Arg), Ensembl rs201863407
- K75Q (p.Lys75Gln), TOPMed rs1830324760
- I77V (p.Ile77Val), TOPMed rs1830324630, Uncertain significance, not specified
- N79S (p.Asn79Ser), NCI-TCGA Cosmic COSV5770, cosmic curated COSV57706, Variant assessed as somatic; moderate impact.
- N79T (p.Asn79Thr), NCI-TCGA Cosmic COSV5770, Variant assessed as somatic; high impact.
- P80L (p.Pro80Leu), NCI-TCGA Cosmic COSV1003, cosmic curated COSV10032, Variant assessed as somatic; moderate impact.
- M81V (p.Met81Val), rs1056218074, NCI-TCGA Cosmic COSV5770, cosmic curated COSV57705, gnomAD rs1056218074, REVEL 0.64, CADD 25.00, Variant assessed as somatic; moderate impact.
- D82N (p.Asp82Asn), Ensembl rs200014098
- M83V (p.Met83Val), Ensembl rs1830324326, Uncertain significance, not specified
- G84E (p.Gly84Glu), TOPMed rs1158063275
- T85S (p.Thr85Ser), gnomAD rs1263020685, REVEL 0.40, CADD 25.20
- K88T (p.Lys88Thr), gnomAD rs1222188451, REVEL 0.37, CADD 27.10
- R89K (p.Arg89Lys), NCI-TCGA TCGA novel, ExAC rs758093548, TOPMed rs758093548, gnomAD rs758093548, REVEL 0.27, CADD 25.70, Variant assessed as somatic; high impact.
- L90V (p.Leu90Val), ExAC rs778876998, gnomAD rs778876998
- E91G (p.Glu91Gly), gnomAD rs1370635791, REVEL 0.49, CADD 28.30
- E91K (p.Glu91Lys), Ensembl rs2132429955, REVEL 0.28, CADD 26.70
- N92S (p.Asn92Ser), ESP rs151326744, ExAC rs151326744, TOPMed rs151326744, gnomAD rs151326744, REVEL 0.06, CADD 22.60, Uncertain significance, not specified
- N93Y (p.Asn93Tyr), NCI-TCGA Cosmic COSV5770, cosmic curated COSV57703, REVEL 0.18, CADD 25.30, Variant assessed as somatic; moderate impact.
- Y94N (p.Tyr94Asn), Ensembl rs1830323834
- Y95C (p.Tyr95Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- W96R (p.Trp96Arg), Ensembl rs1564556199, REVEL 0.31, CADD 24.10
- A98T (p.Ala98Thr), TOPMed rs1830323707, gnomAD rs1830323707, REVEL 0.30, CADD 24.80
- E100G (p.Glu100Gly), Ensembl rs1564556182, REVEL 0.61, CADD 27.00
- E100K (p.Glu100Lys), NCI-TCGA TCGA novel, Ensembl rs1830323600, REVEL 0.50, CADD 26.00, Variant assessed as somatic; moderate impact.
- M108I (p.Met108Ile), gnomAD rs1412525735, REVEL 0.33, CADD 25.20
- M108T (p.Met108Thr), ExAC rs761854382, gnomAD rs761854382, REVEL 0.42, CADD 25.80
- M108V (p.Met108Val), cosmic curated COSV10961, gnomAD rs1174234928, REVEL 0.48, CADD 25.10
- Y113C (p.Tyr113Cys), NCI-TCGA Cosmic COSV5770, cosmic curated COSV57702, Variant assessed as somatic; moderate impact.
- Y113N (p.Tyr113Asn), NCI-TCGA Cosmic COSV1003, cosmic curated COSV10032, NCI-TCGA Cosmic COSV1044, Variant assessed as somatic; moderate impact.
- I114V (p.Ile114Val), ESP rs149142628, TOPMed rs149142628, REVEL 0.19, CADD 21.40, Uncertain significance, not specified
- P118L (p.Pro118Leu), cosmic curated COSV57701, 1000Genomes rs565005949, TOPMed rs565005949, REVEL 0.36, CADD 27.70
- T119A (p.Thr119Ala), Ensembl rs916162206, REVEL 0.23, CADD 23.40
- I122V (p.Ile122Val), Ensembl rs991723524
- A126G (p.Ala126Gly), Ensembl rs2132427051
- A126T (p.Ala126Thr), Ensembl rs2132427056
- L129S (p.Leu129Ser), TOPMed rs1830299616
- E130D (p.Glu130Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- I132N (p.Ile132Asn), Ensembl rs2132426995
- I132S (p.Ile132Ser), NCI-TCGA Cosmic COSV1003, Variant assessed as somatic; moderate impact.
- K136I (p.Lys136Ile), TOPMed rs1830299202, gnomAD rs1830299202, REVEL 0.65, CADD 31.00
- K136N (p.Lys136Asn), ESP rs375036456, ExAC rs375036456, gnomAD rs375036456
- K136R (p.Lys136Arg), TOPMed rs1830299202, gnomAD rs1830299202, REVEL 0.27, CADD 26.90
- V137E (p.Val137Glu), Ensembl rs2132426933
- V137M (p.Val137Met), Ensembl rs200259368, REVEL 0.20, CADD 25.30
- V137W (p.Val137Trp), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- A138T (p.Ala138Thr), Ensembl rs2132426925
- A138V (p.Ala138Val), NCI-TCGA Cosmic COSV5770, cosmic curated COSV57702, Ensembl rs2132426914, REVEL 0.26, CADD 24.10, Variant assessed as somatic; moderate impact.
- M140T (p.Met140Thr), TOPMed rs1830298761, REVEL 0.63, CADD 25.90
- P141S (p.Pro141Ser), Ensembl rs866545645, REVEL 0.56, CADD 26.70
- E143D (p.Glu143Asp), gnomAD rs1830298379
- E143K (p.Glu143Lys), TOPMed rs1830298476, REVEL 0.19, CADD 23.90
- L147F (p.Leu147Phe), ESP rs370315362, ExAC rs370315362, TOPMed rs370315362, gnomAD rs370315362, REVEL 0.17, CADD 18.40
- L148F (p.Leu148Phe), Ensembl rs1588290667
- L148S (p.Leu148Ser), NCI-TCGA Cosmic COSV1003, cosmic curated COSV10032, Variant assessed as somatic; moderate impact.
- P149A (p.Pro149Ala), ExAC rs202111048, gnomAD rs202111048, REVEL 0.20, CADD 18.70
- P149S (p.Pro149Ser), ExAC rs202111048, gnomAD rs202111048, REVEL 0.21, CADD 20.90, Uncertain significance, not specified
- P150L (p.Pro150Leu), NCI-TCGA TCGA novel, REVEL 0.12, CADD 22.90, Variant assessed as somatic; high impact.
- P150S (p.Pro150Ser), Ensembl rs1167205927, REVEL 0.14, CADD 21.50
- P152S (p.Pro152Ser), cosmic curated COSV57701, ExAC rs761473408, gnomAD rs761473408, REVEL 0.14, CADD 21.60
- K153R (p.Lys153Arg), NCI-TCGA Cosmic COSV5770, cosmic curated COSV57706, REVEL 0.15, CADD 22.50, Variant assessed as somatic; moderate impact.
- G154D (p.Gly154Asp), cosmic curated COSV57701, gnomAD rs1250255893, REVEL 0.28, CADD 22.00
- G154V (p.Gly154Val), gnomAD rs1250255893
- K155E (p.Lys155Glu), TOPMed rs1830297789, gnomAD rs1830297789, REVEL 0.20, CADD 24.10
- G156C (p.Gly156Cys), ExAC rs201118076, TOPMed rs201118076, gnomAD rs201118076
- G156S (p.Gly156Ser), ExAC rs201118076, TOPMed rs201118076, gnomAD rs201118076, REVEL 0.08, CADD 23.60
- G156V (p.Gly156Val), Ensembl rs772279611, REVEL 0.12, CADD 23.40
- R157G (p.Arg157Gly), ExAC rs768238584, gnomAD rs768238584
- R157P (p.Arg157Pro), ExAC rs748991694, TOPMed rs748991694, gnomAD rs748991694
- R157Q (p.Arg157Gln), ExAC rs748991694, TOPMed rs748991694, gnomAD rs748991694, REVEL 0.12, CADD 23.00
- R157W (p.Arg157Trp), ExAC rs768238584, gnomAD rs768238584, REVEL 0.35, CADD 29.10
- K158R (p.Lys158Arg), ExAC rs774965311, TOPMed rs774965311, gnomAD rs774965311, REVEL 0.12, CADD 23.30
- P159A (p.Pro159Ala), ExAC rs745603666, gnomAD rs745603666, REVEL 0.12, CADD 22.50
- P159L (p.Pro159Leu), TOPMed rs927632879, gnomAD rs927632879, REVEL 0.11, CADD 23.30
- P159R (p.Pro159Arg), TOPMed rs927632879, gnomAD rs927632879
- P159S (p.Pro159Ser), ExAC rs745603666, gnomAD rs745603666, REVEL 0.12, CADD 22.70
- A160S (p.Ala160Ser), TOPMed rs1830297222, REVEL 0.05, CADD 2.05
Public BRD3 analysis runs
- BRD3 analysis run — BRD3 (1,132 variants) — completed 2026-08-20