H194Y (p.His194Tyr) variant of EZH1 (Q92800)
H194Y (p.His194Tyr) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
H194Y (p.His194Tyr) variant details
- p.His194Tyr
- ExAC rs773788984
- gnomAD rs773788984
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.44
- CADD 22.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available