M111V (p.Met111Val) variant of EZH1 (Q92800)
M111V (p.Met111Val) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
M111V (p.Met111Val) variant details
- p.Met111Val
- ExAC rs766839992
- gnomAD rs766839992
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.75
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available