L77V (p.Leu77Val) variant of OTOF (Otoferlin)
L77V (p.Leu77Val) in OTOF (Otoferlin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
L77V (p.Leu77Val) variant details
- p.Leu77Val
- ESP rs368178451
- ExAC rs368178451
- TOPMed rs368178451
- gnomAD rs368178451
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available