R63* (p.Arg63Ter) variant of EZH2 (Q15910)
R63* (p.Arg63Ter) in EZH2 (Q15910) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
R63* (p.Arg63Ter) variant details
- p.Arg63Ter
- cosmic curated COSV57459
- Ensembl rs2129484980
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.862
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available