E51Q (p.Glu51Gln) variant of EZH1 (Q92800)
E51Q (p.Glu51Gln) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E51Q (p.Glu51Gln) variant details
- p.Glu51Gln
- ESP rs138789077
- ExAC rs138789077
- TOPMed rs138789077
- gnomAD rs138789077
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.33
- CADD 22.40
- PolyPhen-2 0.27
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available