E40E (p.Glu40Glu) variant of EP300 (Histone acetyltransferase p300)
E40E (p.Glu40Glu) in EP300 (Histone acetyltransferase p300) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E40E (p.Glu40Glu) variant details
- p.Glu40Glu
- rs564574458
- gnomAD 22-41117212-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.514
- CADD 8.73
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- Literature evidence available