I108F (p.Ile108Phe) variant of OTOF (Otoferlin)
I108F (p.Ile108Phe) in OTOF (Otoferlin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
I108F (p.Ile108Phe) variant details
- p.Ile108Phe
- ExAC rs727505189
- TOPMed rs727505189
- gnomAD rs727505189
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available