R117W (p.Arg117Trp) variant of OTOF (Otoferlin)
R117W (p.Arg117Trp) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R117W (p.Arg117Trp) variant details
- p.Arg117Trp
- ExAC rs773214630
- TOPMed rs773214630
- gnomAD rs773214630
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.42
- CADD 25.00
- PolyPhen-2 0.73
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available