E162* (p.Glu162Ter) variant of EZH1 (Q92800)
E162* (p.Glu162Ter) 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 0.89 / 1. The record also includes population frequency data and structural context.
E162* (p.Glu162Ter) variant details
- p.Glu162Ter
- rs759344526
- NCI-TCGA Cosmic COSV7054
- cosmic curated COSV70548
- ExAC rs759344526
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.889
- CADD 54.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available