E39* (p.Glu39Ter) variant of OTOF (Otoferlin)
E39* (p.Glu39Ter) in OTOF (Otoferlin) 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 0.87 / 1. The record also includes population frequency data and structural context.
E39* (p.Glu39Ter) variant details
- p.Glu39Ter
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.871
- CADD 43.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available