A17G (p.Ala17Gly) variant of EED (Polycomb protein EED)
A17G (p.Ala17Gly) 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 0.35 / 1. The record also includes population frequency data and structural context.
A17G (p.Ala17Gly) variant details
- p.Ala17Gly
- TOPMed rs1945363239
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.14
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available