A25V (p.Ala25Val) variant of EP300 (Histone acetyltransferase p300)
A25V (p.Ala25Val) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- Ensembl rs2145665733
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.28
- CADD 22.20
- PolyPhen-2 0.07
- SIFT 0.43
- Population evidence available
- Structural context available