P51R (p.Pro51Arg) variant of OTOF (Otoferlin)
P51R (p.Pro51Arg) in OTOF (Otoferlin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P51R (p.Pro51Arg) variant details
- p.Pro51Arg
- ESP rs150132765
- ExAC rs150132765
- TOPMed rs150132765
- gnomAD rs150132765
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available