A18G (p.Ala18Gly) variant of EED (Polycomb protein EED)
A18G (p.Ala18Gly) in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A18G (p.Ala18Gly) variant details
- p.Ala18Gly
- TOPMed rs1945363445
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.19
- CADD 23.20
- PolyPhen-2 0.07
- SIFT 0.14
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available