R242K (p.Arg242Lys) variant of RYR1 (Ryanodine receptor 1)
R242K (p.Arg242Lys) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Centronuclear myopathy.
R242K (p.Arg242Lys) variant details
- p.Arg242Lys
- rs2513987029
- ClinVar RCV004587600
- Likely pathogenic
- Centronuclear myopathy
- Missense
- ClinVar: Likely pathogenic (Centronuclear myopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic