D98E (p.Asp98Glu) variant of OTOF (Otoferlin)
D98E (p.Asp98Glu) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
D98E (p.Asp98Glu) variant details
- p.Asp98Glu
- ExAC rs762137392
- TOPMed rs762137392
- gnomAD rs762137392
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.10
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.54
- Population evidence available
- Structural context available