E79* (p.Glu79Ter) variant of PRKN (O60260)
E79* (p.Glu79Ter) in PRKN (O60260) 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 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E79* (p.Glu79Ter) variant details
- p.Glu79Ter
- rs770994041
- NCI-TCGA Cosmic COSV5826
- cosmic curated COSV58264
- ExAC rs770994041
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 33.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.923