C122F (p.Cys122Phe) variant of MYH6 (Myosin-6)
C122F (p.Cys122Phe) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
C122F (p.Cys122Phe) variant details
- p.Cys122Phe
- TOPMed rs1365800845
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Structural context available