I56M (p.Ile56Met) variant of OTOF (Otoferlin)
I56M (p.Ile56Met) in OTOF (Otoferlin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
I56M (p.Ile56Met) variant details
- p.Ile56Met
- 1000Genomes rs200185262
- ExAC rs200185262
- TOPMed rs200185262
- gnomAD rs200185262
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.33
- CADD 11.90
- PolyPhen-2 0.78
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available