E5D (p.Glu5Asp) variant of EED (Polycomb protein EED)
E5D (p.Glu5Asp) in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E5D (p.Glu5Asp) variant details
- p.Glu5Asp
- gnomAD 11-86245244-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.21
- CADD 22.60
- PolyPhen-2 0.58
- SIFT 0.44
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available