V94G (p.Val94Gly) variant of OTOF (Otoferlin)
V94G (p.Val94Gly) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V94G (p.Val94Gly) variant details
- p.Val94Gly
- ExAC rs773490121
- TOPMed rs773490121
- gnomAD rs773490121
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.48
- CADD 25.80
- PolyPhen-2 0.46
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available