A1782V (p.Ala1782Val) variant of CREBBP (CREB-binding protein)
A1782V (p.Ala1782Val) 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 not provided; Rubinstein-Taybi syndrome due to CREBBP mutations. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A1782V (p.Ala1782Val) variant details
- p.Ala1782Val
- rs2051858361
- ClinGen CA394557089
- cosmic curated COSV52116
- ClinVar RCV001268568
- Pathogenic/Likely pathogenic
- not provided; Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.89
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Rubinstein-Taybi syndrome due to CREBBP mutations)
- EBI: Pathogenic (in MKHK1)
- UniProt: Pathogenic (in MKHK1)
- Population evidence available
- Structural context available
- Cited in: Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. (PMID 29460469)
- Cited in: CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. (PMID 27311832)