F81L (p.Phe81Leu) variant of OTOF (Otoferlin)
F81L (p.Phe81Leu) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
F81L (p.Phe81Leu) variant details
- p.Phe81Leu
- ExAC rs753281507
- TOPMed rs753281507
- gnomAD rs753281507
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.42
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available