E49* (p.Glu49Ter) variant of PRKN (O60260)
E49* (p.Glu49Ter) in PRKN (O60260) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes experimental measurements and structural context.
E49* (p.Glu49Ter) variant details
- p.Glu49Ter
- NCI-TCGA Cosmic COSV5824
- NCI-TCGA Cosmic COSV5828
- cosmic curated COSV58282
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.
- Structural context available
- Parkin (PRKN) cellular abundance: score -0.0176