K47R (p.Lys47Arg) variant of USH1C (Harmonin)
K47R (p.Lys47Arg) in USH1C (Harmonin) is a missense change. The record also includes experimental measurements and structural context.
K47R (p.Lys47Arg) variant details
- p.Lys47Arg
- TOPMed rs1455042541
- Missense
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.375