E7D (p.Glu7Asp) variant of EP300 (Histone acetyltransferase p300)
E7D (p.Glu7Asp) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E7D (p.Glu7Asp) variant details
- p.Glu7Asp
- gnomAD 22-41093025-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.29
- CADD 19.60
- PolyPhen-2 0.08
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available