K50R (p.Lys50Arg) variant of MYH6 (Myosin-6)
K50R (p.Lys50Arg) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 14. The record also includes structural context.
K50R (p.Lys50Arg) variant details
- p.Lys50Arg
- TOPMed rs1891811883
- Uncertain significance
- Hypertrophic cardiomyopathy 14
- Missense
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 14)
- UniProt: Uncertain significance
- Structural context available