K52R (p.Lys52Arg) variant of EZH1 (Q92800)
K52R (p.Lys52Arg) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
K52R (p.Lys52Arg) variant details
- p.Lys52Arg
- ExAC rs761588489
- TOPMed rs761588489
- gnomAD rs761588489
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.28
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available