R7P (p.Arg7Pro) variant of USH1C (Harmonin)
R7P (p.Arg7Pro) 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.
R7P (p.Arg7Pro) variant details
- p.Arg7Pro
- ExAC rs777396814
- TOPMed rs777396814
- gnomAD rs777396814
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- USH1C PDZ domain domainome 1.0: score 0.0255