D43N (p.Asp43Asn) variant of OTOF (Otoferlin)
D43N (p.Asp43Asn) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- gnomAD rs1318733938
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.07
- CADD 20.80
- PolyPhen-2 0.13
- SIFT 0.49
- Population evidence available
- Structural context available