R63G (p.Arg63Gly) variant of USH1C (Harmonin)
R63G (p.Arg63Gly) in USH1C (Harmonin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes experimental measurements and structural context.
R63G (p.Arg63Gly) variant details
- p.Arg63Gly
- ESP rs375741564
- ExAC rs375741564
- TOPMed rs375741564
- gnomAD rs375741564
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.397