M36V (p.Met36Val) variant of EZH1 (Q92800)
M36V (p.Met36Val) in EZH1 (Q92800) 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 and structural context.
M36V (p.Met36Val) variant details
- p.Met36Val
- TOPMed rs2053879320
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.40
- CADD 20.70
- PolyPhen-2 0.02
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available