F1595V (p.Phe1595Val) variant of EP300 (Histone acetyltransferase p300)
F1595V (p.Phe1595Val) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of EP300-related disorder; Inborn genetic diseases; Rubinstein-Taybi syndrome due t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
F1595V (p.Phe1595Val) variant details
- p.Phe1595Val
- rs1057517732
- ClinGen CA16043163
- ClinVar RCV000414599
- ClinVar RCV000433095
- Pathogenic/Likely pathogenic
- EP300-related disorder; Inborn genetic diseases; Rubinstein-Taybi syndrome due t
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.95
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.07
- CADD 27.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (EP300-related disorder; Inborn genetic diseases; Rubinstein-Tayb)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: The Deciphering Developmental Disorders (DDD) study. (PMID 21679367)
- Cited in: Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. (PMID 27465822)