F30L (p.Phe30Leu) variant of OTOF (Otoferlin)
F30L (p.Phe30Leu) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
F30L (p.Phe30Leu) variant details
- p.Phe30Leu
- ExAC rs781632684
- TOPMed rs781632684
- gnomAD rs781632684
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.36
- CADD 25.40
- PolyPhen-2 0.88
- SIFT 0.24
- Population evidence available
- Structural context available