R4Q (p.Arg4Gln) variant of EED (Polycomb protein EED)
R4Q (p.Arg4Gln) in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- rs1402670100
- gnomAD 11-86245078-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 21.10
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available