A11G (p.Ala11Gly) variant of EED (Polycomb protein EED)
A11G (p.Ala11Gly) in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A11G (p.Ala11Gly) variant details
- p.Ala11Gly
- gnomAD 11-86245261-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.29
- CADD 25.00
- PolyPhen-2 0.13
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available