G12E (p.Gly12Glu) variant of EED (Polycomb protein EED)
G12E (p.Gly12Glu) in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- TOPMed rs907459561
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.32
- CADD 27.20
- PolyPhen-2 0.17
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available