I62T (p.Ile62Thr) variant of USH1C (Harmonin)
I62T (p.Ile62Thr) in USH1C (Harmonin) is a missense change. The record also includes experimental measurements and structural context.
I62T (p.Ile62Thr) variant details
- p.Ile62Thr
- TOPMed rs1306706999
- Missense
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.126