E5A (p.Glu5Ala) variant of EED (Polycomb protein EED)
E5A (p.Glu5Ala) in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E5A (p.Glu5Ala) variant details
- p.Glu5Ala
- 1000Genomes rs557688582
- ExAC rs557688582
- gnomAD rs557688582
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.21
- CADD 22.50
- PolyPhen-2 0.68
- SIFT 0.68
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available