A17E (p.Ala17Glu) variant of EED (Polycomb protein EED)
A17E (p.Ala17Glu) in EED (Polycomb protein EED) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A17E (p.Ala17Glu) variant details
- p.Ala17Glu
- TOPMed rs1945363239
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.22
- CADD 22.20
- PolyPhen-2 0.06
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available