A18V (p.Ala18Val) variant of EED (Polycomb protein EED)
A18V (p.Ala18Val) in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- gnomAD 11-86245282-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.19
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.89
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available