Q119* (p.Gln119Ter) variant of EZH1 (Q92800)
Q119* (p.Gln119Ter) in EZH1 (Q92800) 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.
Q119* (p.Gln119Ter) variant details
- p.Gln119Ter
- gnomAD rs1284834316
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.862
- CADD 38.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available