C83R (p.Cys83Arg) variant of EZH1 (Q92800)
C83R (p.Cys83Arg) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
C83R (p.Cys83Arg) variant details
- p.Cys83Arg
- ExAC rs769663372
- gnomAD rs769663372
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.84
- CADD 26.40
- PolyPhen-2 0.54
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available