V94M (p.Val94Met) variant of OTOF (Otoferlin)
V94M (p.Val94Met) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V94M (p.Val94Met) variant details
- p.Val94Met
- TOPMed rs1194603156
- gnomAD rs1194603156
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.06
- CADD 22.30
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available