R27* (p.Arg27Ter) variant of EZH1 (Q92800)
R27* (p.Arg27Ter) in EZH1 (Q92800) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R27* (p.Arg27Ter) variant details
- p.Arg27Ter
- NCI-TCGA Cosmic COSV7054
- cosmic curated COSV70549
- TOPMed rs1693554854
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available