Y118F (p.Tyr118Phe) variant of OTOF (Otoferlin)
Y118F (p.Tyr118Phe) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
Y118F (p.Tyr118Phe) variant details
- p.Tyr118Phe
- ExAC rs761804786
- TOPMed rs761804786
- gnomAD rs761804786
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.54
- CADD 23.70
- PolyPhen-2 0.50
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available