L4F (p.Leu4Phe) variant of OTOF (Otoferlin)
L4F (p.Leu4Phe) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- ExAC rs758195578
- TOPMed rs758195578
- gnomAD rs758195578
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.14
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available