C113* (p.Cys113Ter) variant of OTOF (Otoferlin)
C113* (p.Cys113Ter) in OTOF (Otoferlin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
C113* (p.Cys113Ter) variant details
- p.Cys113Ter
- cosmic curated COSV99719
- 1000Genomes rs139098225
- ESP rs139098225
- ExAC rs139098225
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 34.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available