V88M (p.Val88Met) variant of OTOF (Otoferlin)
V88M (p.Val88Met) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
V88M (p.Val88Met) variant details
- p.Val88Met
- 1000Genomes rs199766309
- ExAC rs199766309
- gnomAD rs199766309
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.34
- CADD 25.10
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available