E52D (p.Glu52Asp) variant of USH1C (Harmonin)
E52D (p.Glu52Asp) in USH1C (Harmonin) is a missense change. The record also includes experimental measurements and structural context.
E52D (p.Glu52Asp) variant details
- p.Glu52Asp
- Ensembl rs1592023929
- Missense
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.98