R48G (p.Arg48Gly) variant of PARK7 (Parkinson disease protein 7)
R48G (p.Arg48Gly) in PARK7 (Parkinson disease protein 7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R48G (p.Arg48Gly) variant details
- p.Arg48Gly
- ExAC rs760020407
- TOPMed rs760020407
- gnomAD rs760020407
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available