D45A (p.Asp45Ala) variant of USH1C (Harmonin)
D45A (p.Asp45Ala) in USH1C (Harmonin) is a missense change. The record also includes experimental measurements and structural context.
D45A (p.Asp45Ala) variant details
- p.Asp45Ala
- gnomAD rs1592024029
- Missense
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.911