K76M (p.Lys76Met) variant of OTOF (Otoferlin)
K76M (p.Lys76Met) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
K76M (p.Lys76Met) variant details
- p.Lys76Met
- ExAC rs759954218
- gnomAD rs759954218
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.47
- CADD 28.90
- PolyPhen-2 0.65
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available