A13S (p.Ala13Ser) variant of EP300 (Histone acetyltransferase p300)
A13S (p.Ala13Ser) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- gnomAD 22-41093041-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.27
- CADD 23.50
- PolyPhen-2 0.94
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available