S76* (p.Ser76Ter) variant of EZH2 (Q15910)
S76* (p.Ser76Ter) in EZH2 (Q15910) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
S76* (p.Ser76Ter) variant details
- p.Ser76Ter
- cosmic curated COSV57462
- TOPMed rs1814072463
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.869
- CADD 39.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available