E46V (p.Glu46Val) variant of OTOF (Otoferlin)
E46V (p.Glu46Val) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
E46V (p.Glu46Val) variant details
- p.Glu46Val
- gnomAD rs1284563346
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.79
- CADD 33.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available