Q28* (p.Gln28Ter) variant of OTOF (Otoferlin)
Q28* (p.Gln28Ter) in OTOF (Otoferlin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
Q28* (p.Gln28Ter) variant details
- p.Gln28Ter
- 1000Genomes rs770168563
- ExAC rs770168563
- gnomAD rs770168563
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 42.00
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available