E52* (p.Glu52Ter) variant of USH1C (Harmonin)
E52* (p.Glu52Ter) in USH1C (Harmonin) 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.
E52* (p.Glu52Ter) variant details
- p.Glu52Ter
- NCI-TCGA Cosmic COSV5003
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.98