E51K (p.Glu51Lys) variant of EZH1 (Q92800)
E51K (p.Glu51Lys) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
E51K (p.Glu51Lys) variant details
- p.Glu51Lys
- ESP rs138789077
- ExAC rs138789077
- TOPMed rs138789077
- gnomAD rs138789077
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.46
- CADD 23.30
- PolyPhen-2 0.39
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available