G12D (p.Gly12Asp) variant of EED (Polycomb protein EED)
G12D (p.Gly12Asp) in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- rs527999615
- gnomAD 11-86245111-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- CADD 20.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available