R26* (p.Arg26Ter) variant of OTOF (Otoferlin)
R26* (p.Arg26Ter) 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 0.77 / 1. The record also includes population frequency data and structural context.
R26* (p.Arg26Ter) variant details
- p.Arg26Ter
- rs145208539
- ClinGen CA1564837
- ClinVar RCV001922354
- ClinVar RCV003120739
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.77
- CADD 43.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available