CREBBP (CREB-binding protein) variants and mutations
CREBBP (also known as CREB-binding protein) is a human protein-coding gene encoding a CREB-binding protein. It acetylates histones and integrates signals from many transcription factors to regulate developmental and activity-dependent gene expression. Germline loss-of-function variants cause Rubinstein-Taybi syndrome, while somatic alterations occur in several cancers. This analysis covers 8,904 CREBBP variants and mutations. Of these, 36% have computational variant effect predictions. Disease context includes Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1, and Rubinstein-Taybi syndrome. Example CREBBP variants include M1K, A2G, and A2S.
Variant analysis overview
- Gene: CREBBP
- Protein: CREB-binding protein
- UniProt accession: Q92793
- Organism: Homo sapiens
- Variants analyzed: 8904
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 8,578 unspecified-consequence records; 218 synonymous variants; 63 missense variants; 28 in-frame deletions; 5 in-frame insertions; 7 frameshift variants; 2 stop-gained variants; 3 substitution
- Prediction scores: 3,238 variants have prediction scores (36% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome, diffuse large B-cell lymphoma, cancer, hereditary disease, urinary bladder cancer, Intellectual disability, Menke-Hennekam syndrome, acute lymphoblastic leukemia, lymphoma, Tip-toe gait.
Protein structure and variant hotspots
- Protein features: 3 domains; 25 binding sites; 25 post-translational modification sites.
- Structural context: 1,903 variants have structural context.
- PTM context: 86 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable CREBBP variants
Examples include M1K, A2G, A2S, E3D, E3K, N4K, N4S, L6Q. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1K (p.Met1Lys), rs797045487, ClinGen CA277198, ClinVar RCV000193780, MetaLR 0.85, MetaSVM 0.84, Pathogenic, Rubinstein-Taybi syndrome due to CREBBP mutations
- A2G (p.Ala2Gly), Ensembl rs2141616688
- A2S (p.Ala2Ser), ExAC rs757085278, gnomAD rs757085278, REVEL 0.54, CADD 25.90
- E3D (p.Glu3Asp), NCI-TCGA TCGA novel, REVEL 0.13, CADD 19.40, Variant assessed as somatic; moderate impact.
- E3K (p.Glu3Lys), cosmic curated COSV10510, Ensembl rs2141616679
- N4K (p.Asn4Lys), ExAC rs753627831, gnomAD rs753627831, Uncertain significance, See cases
- N4S (p.Asn4Ser), TOPMed rs2055491322
- L6Q (p.Leu6Gln), Ensembl rs2141616606
- L6V (p.Leu6Val), TOPMed rs1023187476, gnomAD rs1023187476, REVEL 0.34, CADD 23.90, Likely benign
- D7E (p.Asp7Glu), ESP rs375531370, ExAC rs375531370, TOPMed rs375531370, gnomAD rs375531370, REVEL 0.28, CADD 23.50, Likely benign
- D7H (p.Asp7His), Ensembl rs2141616578
- G8R (p.Gly8Arg), Ensembl rs2141616543
- P9A (p.Pro9Ala), Ensembl rs2141616516
- P9L (p.Pro9Leu), ESP rs137867843, gnomAD rs137867843, REVEL 0.60, CADD 26.60, Uncertain significance, Rubinstein-Taybi syndrome
- P10H (p.Pro10His), Ensembl rs2141616479, REVEL 0.57, CADD 25.80
- N11K (p.Asn11Lys), ExAC rs760605276, gnomAD rs760605276, REVEL 0.34, CADD 23.30, Uncertain significance, CREBBP-related disorder
- N11S (p.Asn11Ser), rs2548581843, ClinGen CA394567883, ClinVar RCV003030475, Uncertain significance, Rubinstein-Taybi syndrome
- P12A (p.Pro12Ala), Ensembl rs2055490745, Uncertain significance
- P12H (p.Pro12His), cosmic curated COSV52134, Ensembl rs2141616410, REVEL 0.25, CADD 26.80
- P12T (p.Pro12Thr), rs2055490745, ClinGen CA394567879, ClinVar RCV002252559, ClinVar RCV006558691, REVEL 0.19, CADD 23.60, Uncertain significance, Rubinstein-Taybi syndrome; See cases
- K13E (p.Lys13Glu), rs587783484, ClinGen CA271394, ClinVar RCV000145740, Ensembl rs587783484, AlphaMissense 0.44, MetaLR 0.85, Likely pathogenic, Rubinstein-Taybi syndrome due to CREBBP mutations
- K13I (p.Lys13Ile), Ensembl rs2141616347, Uncertain significance
- K13Q (p.Lys13Gln), rs587783484, ClinGen CA394567872, ClinVar RCV001220894, Ensembl rs587783484, AlphaMissense 0.44, MetaLR 0.85, Uncertain significance, Rubinstein-Taybi syndrome
- K13R (p.Lys13Arg), rs2141616347, ClinGen CA394567870, ClinVar RCV001768769, Ensembl rs2141616347, AlphaMissense 0.10, MetaLR 0.84, Uncertain significance, not provided
- R14I (p.Arg14Ile), gnomAD rs1166925008, REVEL 0.70, CADD 28.00
- A15G (p.Ala15Gly), rs1439032753, ClinGen CA394567844, ClinVar RCV002328677, ClinVar RCV003775907, REVEL 0.29, CADD 25.30, Uncertain significance, Inborn genetic diseases; Rubinstein-Taybi syndrome
- A15P (p.Ala15Pro), Ensembl rs2141616315, Uncertain significance
- A15T (p.Ala15Thr), Ensembl rs2141616315, Uncertain significance, Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1
- A15V (p.Ala15Val), TOPMed rs1439032753, gnomAD rs1439032753, REVEL 0.31, CADD 25.70, Uncertain significance
- K16N (p.Lys16Asn), Ensembl rs2141616263
- L17H (p.Leu17His), Ensembl rs2141616248
- S18G (p.Ser18Gly), Ensembl rs2141616232
- S18N (p.Ser18Asn), TOPMed rs2055490039
- S19L (p.Ser19Leu), Ensembl rs2141616194
- P20L (p.Pro20Leu), rs759137934, ClinGen CA7870763, ClinVar RCV002894809, ExAC rs759137934, REVEL 0.66, CADD 28.10, Likely benign, Rubinstein-Taybi syndrome
- P20S (p.Pro20Ser), Ensembl rs2055489891, REVEL 0.48, CADD 25.80
- G21A (p.Gly21Ala), TOPMed rs1211983012, gnomAD rs1211983012, Likely benign
- G21D (p.Gly21Asp), rs1211983012, ClinGen CA394567769, cosmic curated COSV52118, ClinVar RCV001198521, REVEL 0.50, CADD 25.70, Conflicting interpretations, Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome
- G21R (p.Gly21Arg), Ensembl rs2141616123, Uncertain significance
- G21S (p.Gly21Ser), rs2141616123, ClinGen CA394567775, ClinVar RCV003760888, Ensembl rs2141616123, AlphaMissense 0.10, MetaLR 0.46, Uncertain significance, Rubinstein-Taybi syndrome
- S23L (p.Ser23Leu), TOPMed rs2055489627, gnomAD rs2055489627, REVEL 0.47, CADD 28.50
- S23P (p.Ser23Pro), rs2548581727, ClinGen CA394567746, ClinVar RCV003145892, Uncertain significance, not provided
- S23W (p.Ser23Trp), TOPMed rs2055489627, gnomAD rs2055489627
- A24G (p.Ala24Gly), Ensembl rs797045501, Uncertain significance
- A24S (p.Ala24Ser), ExAC rs762331442, gnomAD rs762331442, CADD 0.12
- A24T (p.Ala24Thr), rs762331442, ClinGen CA394567734, ClinVar RCV003594826, AlphaMissense 0.08, MetaLR 0.35, Uncertain significance, Rubinstein-Taybi syndrome
- A24V (p.Ala24Val), rs797045501, ClinGen CA208770, ClinVar RCV000194538, ClinVar RCV005860031, CADD 1.00, Uncertain significance, Rubinstein-Taybi syndrome due to CREBBP mutations; not specified
- N25K (p.Asn25Lys), gnomAD rs2055489264, REVEL 0.24, CADD 23.50
- D26N (p.Asp26Asn), Ensembl rs2141615991
- S27C (p.Ser27Cys), rs878985635, ClinGen CA394567692, ClinVar RCV003332812, AlphaMissense 0.06, MetaLR 0.23, Uncertain significance, not provided
- S27G (p.Ser27Gly), TOPMed rs878985635, gnomAD rs878985635, REVEL 0.23, AlphaMissense 0.06
- S27N (p.Ser27Asn), ExAC rs769297821, gnomAD rs769297821, REVEL 0.20, CADD 21.80, Likely benign, Rubinstein-Taybi syndrome
- S27R (p.Ser27Arg), gnomAD rs2055489060, REVEL 0.28, CADD 26.10
- T28A (p.Thr28Ala), gnomAD rs1289100849, REVEL 0.21, CADD 20.70
- T28I (p.Thr28Ile), Ensembl rs2141615923, REVEL 0.35, CADD 24.10
- T28P (p.Thr28Pro), gnomAD rs1289100849
- T28R (p.Thr28Arg), Ensembl rs2141615923
- D29N (p.Asp29Asn), Ensembl rs2141615878
- D29Y (p.Asp29Tyr), NCI-TCGA Cosmic COSV9927, cosmic curated COSV99270, Ensembl rs2141615878, Variant assessed as somatic; moderate impact.
- F30V (p.Phe30Val), NCI-TCGA Cosmic COSV9926, cosmic curated COSV99269, CADD 3.62, Variant assessed as somatic; moderate impact.
- G31V (p.Gly31Val), Ensembl rs2141496874
- S32L (p.Ser32Leu), rs865788612, NCI-TCGA Cosmic COSV5212, cosmic curated COSV52123, Ensembl rs865788612, AlphaMissense 0.11, MetaLR 0.75, Variant assessed as somatic; moderate impact.
- S32T (p.Ser32Thr), ExAC rs772454683, gnomAD rs772454683
- L33F (p.Leu33Phe), cosmic curated COSV52113, Ensembl rs2141496819, REVEL 0.31, CADD 17.80
- L33S (p.Leu33Ser), ExAC rs746019318, gnomAD rs746019318, REVEL 0.59, CADD 27.90
- D35E (p.Asp35Glu), rs372495787, ClinGen CA276987731, ClinVar RCV001760769, ClinVar RCV002252698, REVEL 0.42, CADD 24.10, Conflicting interpretations, Inborn genetic diseases; Rubinstein-Taybi syndrome; not provided
- D35V (p.Asp35Val), Ensembl rs2141496807
- E37K (p.Glu37Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N38S (p.Asn38Ser), TOPMed rs1260576843, gnomAD rs1260576843, REVEL 0.40, CADD 24.30
- L40F (p.Leu40Phe), ExAC rs774359612, gnomAD rs774359612, REVEL 0.75, CADD 23.60
- I45V (p.Ile45Val), NCI-TCGA Cosmic COSV9927, cosmic curated COSV99270, Variant assessed as somatic; moderate impact.
- P46H (p.Pro46His), Ensembl rs2141496732
- P46S (p.Pro46Ser), cosmic curated COSV10605, Ensembl rs2054822197, REVEL 0.37, CADD 23.70, Uncertain significance, not provided
- N47S (p.Asn47Ser), rs536856848, ClinGen CA7870730, cosmic curated COSV99273, ClinVar RCV003086577, REVEL 0.34, CADD 23.30, Conflicting interpretations, Rubinstein-Taybi syndrome; CREBBP-related disorder
- G49E (p.Gly49Glu), gnomAD rs1258345028, REVEL 0.38, CADD 24.20
- G52S (p.Gly52Ser), gnomAD rs1323366315, REVEL 0.19, CADD 14.20
- L53F (p.Leu53Phe), cosmic curated COSV10509, gnomAD rs1220521982, REVEL 0.47, CADD 24.40
- L53P (p.Leu53Pro), NCI-TCGA Cosmic COSV5211, NCI-TCGA Cosmic COSV9927, cosmic curated COSV99270, Ensembl rs2141496634, REVEL 0.58, CADD 27.30, Variant assessed as somatic; moderate impact.
- L54F (p.Leu54Phe), TOPMed rs1464086939, gnomAD rs1464086939, REVEL 0.36, CADD 23.60
- N55K (p.Asn55Lys), rs1295122362, ClinGen CA394562498, ClinVar RCV003867604, gnomAD rs1295122362, REVEL 0.31, CADD 23.30, Likely benign, Rubinstein-Taybi syndrome
- N55S (p.Asn55Ser), rs587783466, ClinGen CA271365, ClinVar RCV000145718, ClinVar RCV002478406, REVEL 0.23, CADD 16.00, Conflicting interpretations, Rubinstein-Taybi syndrome; not specified; Rubinstein-Taybi syndrome due to CREBB
- S56C (p.Ser56Cys), 1000Genomes rs201243744, ESP rs201243744, REVEL 0.36, CADD 25.60
- S56R (p.Ser56Arg), Ensembl rs2141496553, REVEL 0.45, CADD 25.20
- G57V (p.Gly57Val), cosmic curated COSV52133, TOPMed rs757504250, gnomAD rs757504250, REVEL 0.64, CADD 23.10, Uncertain significance, Rubinstein-Taybi syndrome
- N58Y (p.Asn58Tyr), rs2548546613, ClinGen CA394562451, ClinVar RCV003758511, REVEL 0.48, CADD 25.80, Uncertain significance, Rubinstein-Taybi syndrome
- L59F (p.Leu59Phe), rs747862621, ClinGen CA7870728, cosmic curated COSV52117, ClinVar RCV003086185, REVEL 0.49, CADD 23.40, Conflicting interpretations, Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome due to CREBBP mutations; Me
- P61L (p.Pro61Leu), NCI-TCGA Cosmic COSV5212, cosmic curated COSV52129, Variant assessed as somatic; moderate impact.
- P61T (p.Pro61Thr), rs929503319, ClinGen CA276987666, ClinVar RCV002590175, ClinVar RCV004744386, REVEL 0.51, CADD 25.00, Benign, Rubinstein-Taybi syndrome
- D62Y (p.Asp62Tyr), Ensembl rs2141496479
- A63S (p.Ala63Ser), Ensembl rs2141496449
- A63T (p.Ala63Thr), Ensembl rs2141496449
- A63V (p.Ala63Val), TOPMed rs1186676649, gnomAD rs1186676649, REVEL 0.54, CADD 27.60, Uncertain significance, CREBBP-related disorder
- A64P (p.Ala64Pro), ExAC rs754855364, gnomAD rs754855364
- A64S (p.Ala64Ser), ExAC rs754855364, gnomAD rs754855364
- A64T (p.Ala64Thr), ExAC rs754855364, gnomAD rs754855364, REVEL 0.48, CADD 25.60
- S65C (p.Ser65Cys), Ensembl rs1364163978, REVEL 0.60, CADD 27.50
- K66N (p.Lys66Asn), Ensembl rs1220569951
- K66R (p.Lys66Arg), TOPMed rs2054820935, REVEL 0.38, CADD 26.50
- H67D (p.His67Asp), rs751125621, ClinGen CA7870725, ClinVar RCV002221729, ClinVar RCV004744331, REVEL 0.59, CADD 26.10, Uncertain significance, Inborn genetic diseases; Rubinstein-Taybi syndrome due to CREBBP mutations; Menk
- H67R (p.His67Arg), TOPMed rs61759496, REVEL 0.54, CADD 25.60, Uncertain significance, CREBBP-related disorder
- Q69H (p.Gln69His), TOPMed rs1222729071, gnomAD rs1222729071, NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q69K (p.Gln69Lys), TOPMed rs1465658343, gnomAD rs1465658343, REVEL 0.54, CADD 26.10
- L70Q (p.Leu70Gln), Ensembl rs2141496277
- S71L (p.Ser71Leu), rs2141496254, ClinGen CA394562162, NCI-TCGA Cosmic COSV5211, cosmic curated COSV52114, REVEL 0.72, CADD 28.90, Uncertain significance, Inborn genetic diseases
- S71W (p.Ser71Trp), Ensembl rs2141496254, Uncertain significance, CREBBP-related disorder
- E72D (p.Glu72Asp), rs534853661, ClinGen CA7870724, ClinVar RCV002788909, ClinVar RCV004741545, REVEL 0.34, CADD 22.30, Benign/Likely benign, Inborn genetic diseases; Rubinstein-Taybi syndrome
- E72K (p.Glu72Lys), Ensembl rs2141496230
- L74V (p.Leu74Val), cosmic curated COSV52118, Ensembl rs2141496206
- R75* (p.Arg75Ter), rs2141496166, ClinGen CA394562067, cosmic curated COSV52113, ClinVar RCV002276337, Pathogenic
- R75Q (p.Arg75Gln), rs794727273, ClinGen CA241537, ClinVar RCV000175774, ClinVar RCV006555544, REVEL 0.52, CADD 24.40, Uncertain significance, Rubinstein-Taybi syndrome; not provided
- G76A (p.Gly76Ala), gnomAD rs1258706330
- G76E (p.Gly76Glu), gnomAD rs1258706330, REVEL 0.56, CADD 25.00
- S78G (p.Ser78Gly), ExAC rs764774054, gnomAD rs764774054, REVEL 0.35, CADD 23.30
- S78R (p.Ser78Arg), ExAC rs764774054, gnomAD rs764774054, Uncertain significance, not provided
- G79D (p.Gly79Asp), gnomAD rs1200676852, REVEL 0.30, CADD 23.70
- G79S (p.Gly79Ser), rs752992134, ClinGen CA7870719, NCI-TCGA Cosmic COSV5213, cosmic curated COSV52133, REVEL 0.14, CADD 4.15, Conflicting interpretations, Inborn genetic diseases; Menke-Hennekam syndrome 1; Rubinstein-Taybi syndrome du
- G79V (p.Gly79Val), gnomAD rs1200676852
- S80C (p.Ser80Cys), rs1318683084, ClinGen CA394561953, ClinVar RCV001336682, gnomAD rs1318683084, REVEL 0.52, CADD 26.40, Uncertain significance, Rubinstein-Taybi syndrome due to CREBBP mutations
- S81G (p.Ser81Gly), ExAC rs768084504, gnomAD rs768084504, REVEL 0.17, CADD 15.90
- S81I (p.Ser81Ile), rs372793936, ClinGen CA394561934, ClinVar RCV003231975, ClinVar RCV005102463, REVEL 0.27, AlphaMissense 0.12, Uncertain significance, Rubinstein-Taybi syndrome; not provided
- S81N (p.Ser81Asn), rs372793936, ClinGen CA276987541, ClinVar RCV001761064, TOPMed rs372793936, AlphaMissense 0.12, MetaLR 0.26, Uncertain significance, not provided
- S81T (p.Ser81Thr), TOPMed rs372793936, REVEL 0.10, AlphaMissense 0.12, Uncertain significance
- I82* (p.Ile82Ter), rs1597054662, ClinGen CA915949059, ClinVar RCV000856841, Pathogenic
- I82T (p.Ile82Thr), gnomAD rs1323691487, REVEL 0.31, CADD 22.60
- I82V (p.Ile82Val), rs374701416, ClinGen CA7870717, ClinVar RCV001767292, ESP rs374701416, REVEL 0.15, CADD 17.40, Uncertain significance, not provided
- N83T (p.Asn83Thr), rs1241593773, ClinGen CA394561897, cosmic curated COSV52145, ClinVar RCV003760644, REVEL 0.12, CADD 16.90, Uncertain significance, Rubinstein-Taybi syndrome
- P84A (p.Pro84Ala), rs770952413, ClinGen CA7870715, ClinVar RCV003410609, ExAC rs770952413, REVEL 0.27, CADD 16.20, Uncertain significance, CREBBP-related disorder
- P84R (p.Pro84Arg), TOPMed rs1328043737, gnomAD rs1328043737, REVEL 0.40, CADD 22.50, Uncertain significance, CREBBP-related disorder
- P84S (p.Pro84Ser), ExAC rs770952413, TOPMed rs770952413, gnomAD rs770952413, REVEL 0.26, CADD 19.10, Uncertain significance, Rubinstein-Taybi syndrome
- P84T (p.Pro84Thr), rs770952413, ClinGen CA7870716, ClinVar RCV001620834, ClinVar RCV002539566, REVEL 0.24, CADD 19.50, Benign/Likely benign, Rubinstein-Taybi syndrome; Inborn genetic diseases; not provided
- G85E (p.Gly85Glu), rs2141495853, ClinGen CA394561857, ClinVar RCV001816170, Ensembl rs2141495853, AlphaMissense 0.41, MetaLR 0.64, Uncertain significance, not provided
- G85R (p.Gly85Arg), ExAC rs763002215, TOPMed rs763002215, gnomAD rs763002215, REVEL 0.45, CADD 25.50
- I86M (p.Ile86Met), rs2054819160, ClinGen CA394561831, ClinVar RCV001255816, ClinVar RCV003770328, REVEL 0.21, CADD 15.80, Uncertain significance, Rubinstein-Taybi syndrome
- G87A (p.Gly87Ala), Ensembl rs2141495809
- G87E (p.Gly87Glu), Ensembl rs2141495809, REVEL 0.46, CADD 24.10
- G87P (p.Gly87Pro), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- N88S (p.Asn88Ser), Ensembl rs2141495769
- N88Y (p.Asn88Tyr), gnomAD rs2054819091, REVEL 0.52, CADD 24.00
- V89E (p.Val89Glu), TOPMed rs1257025481, gnomAD rs1257025481, REVEL 0.45, CADD 22.70
- S90C (p.Ser90Cys), Ensembl rs2141495735
- S90G (p.Ser90Gly), Ensembl rs2141495735
- S90R (p.Ser90Arg), Ensembl rs2141495735, REVEL 0.33, CADD 14.00, Benign
- A91G (p.Ala91Gly), gnomAD rs1395157664
- A91S (p.Ala91Ser), rs200673670, ClinGen CA7870710, ClinVar RCV000658735, ClinVar RCV001198613, REVEL 0.20, CADD 13.40, Conflicting interpretations, Rubinstein-Taybi syndrome; not provided; Rubinstein-Taybi syndrome due to CREBBP
- A91T (p.Ala91Thr), rs200673670, ClinGen CA158182, ClinVar RCV000120599, ClinVar RCV003593913, REVEL 0.26, CADD 22.60, Likely benign, Rubinstein-Taybi syndrome
- A91V (p.Ala91Val), gnomAD rs1395157664, REVEL 0.28, CADD 22.40
- S92G (p.Ser92Gly), rs768640793, ClinGen CA7870709, ClinVar RCV003760236, ExAC rs768640793, REVEL 0.24, CADD 18.90, Likely benign, Rubinstein-Taybi syndrome
- S92I (p.Ser92Ile), ExAC rs746902106, gnomAD rs746902106, Benign
- S92N (p.Ser92Asn), rs746902106, ClinGen CA7870708, cosmic curated COSV10608, ClinVar RCV001043763, REVEL 0.27, CADD 15.70, Benign, Rubinstein-Taybi syndrome
- S93N (p.Ser93Asn), rs149092707, ClinGen CA7870707, ClinVar RCV002993852, ESP rs149092707, REVEL 0.37, CADD 24.40, Likely benign, Rubinstein-Taybi syndrome
- S93T (p.Ser93Thr), ESP rs149092707, ExAC rs149092707, TOPMed rs149092707, gnomAD rs149092707, Likely benign
- P94L (p.Pro94Leu), gnomAD rs979410323, REVEL 0.53, CADD 25.50, Uncertain significance, Inborn genetic diseases
- V95E (p.Val95Glu), Ensembl rs2141495482
- V95G (p.Val95Gly), Ensembl rs2141495482
- V95L (p.Val95Leu), ExAC rs756802946, TOPMed rs756802946, gnomAD rs756802946, Likely benign
- V95M (p.Val95Met), rs756802946, ClinGen CA7870703, cosmic curated COSV10608, ClinVar RCV000989513, REVEL 0.32, CADD 23.30, Conflicting interpretations, Rubinstein-Taybi syndrome; not provided; Rubinstein-Taybi syndrome due to CREBBP
- Q96* (p.Gln96Ter), rs587783476, ClinGen CA271381, cosmic curated COSV52120, ClinVar RCV000145732, Pathogenic
- Q96H (p.Gln96His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q97E (p.Gln97Glu), Ensembl rs2141495440
- Q97H (p.Gln97His), gnomAD rs1249950865, REVEL 0.38, CADD 17.60
- G98A (p.Gly98Ala), 1000Genomes rs141982003, ESP rs141982003, ExAC rs141982003, TOPMed rs141982003, Benign
- G98D (p.Gly98Asp), 1000Genomes rs141982003, ESP rs141982003, ExAC rs141982003, TOPMed rs141982003, Benign
- G98R (p.Gly98Arg), ExAC rs767736927, TOPMed rs767736927, gnomAD rs767736927, Uncertain significance
- G98S (p.Gly98Ser), rs767736927, ClinGen CA7870701, ClinVar RCV003954847, ClinVar RCV004981153, REVEL 0.43, CADD 23.80, Uncertain significance, Rubinstein-Taybi syndrome; Inborn genetic diseases
- G98V (p.Gly98Val), rs141982003, ClinGen CA158184, ClinVar RCV000120600, ClinVar RCV000877781, REVEL 0.64, CADD 24.60, Benign/Likely benign, Rubinstein-Taybi syndrome; Inborn genetic diseases; not specified
- G100C (p.Gly100Cys), TOPMed rs1292732731, gnomAD rs1292732731, REVEL 0.54, CADD 22.90
- G100D (p.Gly100Asp), Ensembl rs2141495301
- G100S (p.Gly100Ser), TOPMed rs1292732731, gnomAD rs1292732731, REVEL 0.23, CADD 15.20
- G101D (p.Gly101Asp), Ensembl rs2141495270, REVEL 0.26, CADD 18.10
- G101V (p.Gly101Val), Ensembl rs2141495270, REVEL 0.28, CADD 21.70
- Q102R (p.Gln102Arg), cosmic curated COSV52137, TOPMed rs2054817509
- A103G (p.Ala103Gly), TOPMed rs2054817460
- A103T (p.Ala103Thr), Ensembl rs2141495220
- A103V (p.Ala103Val), TOPMed rs2054817460
- Q104E (p.Gln104Glu), cosmic curated COSV99062, Ensembl rs2141495172
- Q104R (p.Gln104Arg), gnomAD rs1356986971, REVEL 0.38, CADD 22.60
- Q106* (p.Gln106Ter), rs587783478, ClinGen CA271384, ClinVar RCV000145734, Ensembl rs587783478, Pathogenic
- Q106H (p.Gln106His), rs764200811, ClinGen CA276987414, ClinVar RCV002909171, ClinVar RCV005019455, REVEL 0.53, CADD 20.20, Uncertain significance, Rubinstein-Taybi syndrome; Menke-Hennekam syndrome 1; Rubinstein-Taybi syndrome
- P107A (p.Pro107Ala), Ensembl rs2141495089
- P107L (p.Pro107Leu), rs766844540, ClinGen CA7870699, cosmic curated COSV52135, ClinVar RCV001065768, REVEL 0.51, CADD 24.60, Likely benign, Rubinstein-Taybi syndrome
Public CREBBP analysis runs
- CREBBP analysis run — CREBBP (8,904 variants) — completed 2026-08-18