V89E (p.Val89Glu) variant of OTOF (Otoferlin)
V89E (p.Val89Glu) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V89E (p.Val89Glu) variant details
- p.Val89Glu
- ExAC rs766934718
- TOPMed rs766934718
- gnomAD rs766934718
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.48
- CADD 24.00
- PolyPhen-2 0.30
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available