Y1175C (p.Tyr1175Cys) variant of CREBBP (CREB-binding protein)
Y1175C (p.Tyr1175Cys) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Rubinstein-Taybi syndrome due to CREBBP mutations. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
Y1175C (p.Tyr1175Cys) variant details
- p.Tyr1175Cys
- rs28937315
- ClinGen CA254814
- cosmic curated COSV10941
- ClinVar RCV000010039
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- MutPred 0.92
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Rubinstein-Taybi syndrome due to CREBBP)
- EBI: Pathogenic (in RSTS1)
- UniProt: Pathogenic (in RSTS1)
- Structural context available
- Cited in: Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in… (PMID 12114483)
- Cited in: Binding of the histone chaperone ASF1 to the CBP bromodomain promotes histone acetylation. (PMID 24616510)