R80L (p.Arg80Leu) variant of USH1C (Harmonin)
R80L (p.Arg80Leu) 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.
R80L (p.Arg80Leu) variant details
- p.Arg80Leu
- ESP rs148597739
- ExAC rs148597739
- TOPMed rs148597739
- gnomAD rs148597739
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.678