L16R (p.Leu16Arg) variant of MYH6 (Myosin-6)
L16R (p.Leu16Arg) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
L16R (p.Leu16Arg) variant details
- p.Leu16Arg
- rs2502213153
- ClinGen CA389032177
- ClinVar RCV004513760
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available