R64H (p.Arg64His) variant of EZH1 (Q92800)
R64H (p.Arg64His) 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.
R64H (p.Arg64His) variant details
- p.Arg64His
- ExAC rs770961875
- TOPMed rs770961875
- gnomAD rs770961875
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.47
- CADD 22.90
- PolyPhen-2 0.19
- SIFT 0.15
- Most common in the Latino/Admixed American population (allele frequency 6.9e-05)
- Structural context available