N59K (p.Asn59Lys) variant of OTOF (Otoferlin)
N59K (p.Asn59Lys) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N59K (p.Asn59Lys) variant details
- p.Asn59Lys
- TOPMed rs1382647316
- gnomAD rs1382647316
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.23
- CADD 15.60
- PolyPhen-2 0.14
- SIFT 0.17
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available