V96M (p.Val96Met) variant of OTOF (Otoferlin)
V96M (p.Val96Met) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V96M (p.Val96Met) variant details
- p.Val96Met
- gnomAD rs1238722201
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.12
- CADD 22.90
- PolyPhen-2 0.33
- SIFT 0.00
- Population evidence available
- Structural context available