K109M (p.Lys109Met) variant of OTOF (Otoferlin)
K109M (p.Lys109Met) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K109M (p.Lys109Met) variant details
- p.Lys109Met
- ExAC rs747863126
- TOPMed rs747863126
- gnomAD rs747863126
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.14
- CADD 25.40
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available