G12R (p.Gly12Arg) variant of EED (Polycomb protein EED)
G12R (p.Gly12Arg) in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- TOPMed rs1240623101
- gnomAD rs1240623101
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.37
- CADD 26.20
- PolyPhen-2 0.30
- SIFT 0.10
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available