E46D (p.Glu46Asp) variant of OTOF (Otoferlin)
E46D (p.Glu46Asp) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E46D (p.Glu46Asp) variant details
- p.Glu46Asp
- gnomAD rs1419930988
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.53
- CADD 35.00
- PolyPhen-2 0.92
- SIFT 0.01
- Population evidence available
- Structural context available