N75D (p.Asn75Asp) variant of OTOF (Otoferlin)
N75D (p.Asn75Asp) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
N75D (p.Asn75Asp) variant details
- p.Asn75Asp
- ExAC rs761052683
- gnomAD rs761052683
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.32
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available