R25* (p.Arg25Ter) variant of EZH1 (Q92800)
R25* (p.Arg25Ter) in EZH1 (Q92800) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R25* (p.Arg25Ter) variant details
- p.Arg25Ter
- cosmic curated COSV70550
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.407
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available