Y1503F (p.Tyr1503Phe) variant of CREBBP (CREB-binding protein)
Y1503F (p.Tyr1503Phe) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rubinstein-Taybi syndrome due to CREBBP mutations. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
Y1503F (p.Tyr1503Phe) variant details
- p.Tyr1503Phe
- rs587783497
- cosmic curated COSV52117
- UniProt VAR 072922
- Ensembl rs587783497
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.91
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to CREBBP mutations)
- EBI: Pathogenic (in RSTS1)
- UniProt: Pathogenic (in RSTS1)
- Structural context available
- Cited in: Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi… (PMID 25388907)
- Cited in: Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi… (PMID 11331617)