C1240Y (p.Cys1240Tyr) variant of CREBBP (CREB-binding protein)
C1240Y (p.Cys1240Tyr) 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 Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
C1240Y (p.Cys1240Tyr) variant details
- p.Cys1240Tyr
- rs1596839714
- ClinGen CA394568097
- cosmic curated COSV52116
- ClinVar RCV000856912
- Pathogenic/Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- MutPred 0.85
- ClinVar: Pathogenic/Likely pathogenic (Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Ta)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)