K76* (p.Lys76Ter) variant of OTOF (Otoferlin)
K76* (p.Lys76Ter) in OTOF (Otoferlin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
K76* (p.Lys76Ter) variant details
- p.Lys76Ter
- rs772565732
- ClinGen CA1564765
- ClinVar RCV003700876
- ExAC rs772565732
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 42.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available