V6L (p.Val6Leu) variant of EED (Polycomb protein EED)
V6L (p.Val6Leu) in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
V6L (p.Val6Leu) variant details
- p.Val6Leu
- gnomAD 11-86245245-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.20
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available