Y42H (p.Tyr42His) variant of EZH1 (Q92800)
Y42H (p.Tyr42His) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Y42H (p.Tyr42His) variant details
- p.Tyr42His
- ExAC rs755595172
- gnomAD rs755595172
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.57
- CADD 25.50
- PolyPhen-2 0.61
- SIFT 0.02
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available