R64C (p.Arg64Cys) variant of EZH1 (Q92800)
R64C (p.Arg64Cys) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R64C (p.Arg64Cys) variant details
- p.Arg64Cys
- cosmic curated COSV10133
- TOPMed rs917590262
- gnomAD rs917590262
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.64
- CADD 28.70
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available