D32G (p.Asp32Gly) variant of EP300 (Histone acetyltransferase p300)
D32G (p.Asp32Gly) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
D32G (p.Asp32Gly) variant details
- p.Asp32Gly
- gnomAD 22-41117187-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.56
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available