L33V (p.Leu33Val) variant of EED (Polycomb protein EED)
L33V (p.Leu33Val) in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
L33V (p.Leu33Val) variant details
- p.Leu33Val
- ExAC rs748759009
- TOPMed rs748759009
- gnomAD rs748759009
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.17
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the East Asian population (allele frequency 2.5e-05)