Y23H (p.Tyr23His) variant of EZH1 (Q92800)
Y23H (p.Tyr23His) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
Y23H (p.Tyr23His) variant details
- p.Tyr23His
- ExAC rs778710525
- gnomAD rs778710525
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.84
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available