A22V (p.Ala22Val) variant of EP300 (Histone acetyltransferase p300)
A22V (p.Ala22Val) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of EP300-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- TOPMed rs755558514
- gnomAD rs755558514
- Uncertain significance
- EP300-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.38
- CADD 27.40
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (EP300-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available