E3E (p.Glu3Glu) variant of EP300 (Histone acetyltransferase p300)
E3E (p.Glu3Glu) in EP300 (Histone acetyltransferase p300) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E3E (p.Glu3Glu) variant details
- p.Glu3Glu
- rs2058682150
- gnomAD 22-41093013-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.575
- AlphaMissense 0.15
- MetaLR 0.43
- MetaSVM -0.20
- CADD 13.20
- PolyPhen-2 0.51
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available