E5K (p.Glu5Lys) variant of EED (Polycomb protein EED)
E5K (p.Glu5Lys) in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E5K (p.Glu5Lys) variant details
- p.Glu5Lys
- TOPMed rs1250649508
- gnomAD rs1250649508
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.24
- CADD 23.40
- PolyPhen-2 0.68
- SIFT 0.54
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available