E36K (p.Glu36Lys) variant of MYH6 (Myosin-6)
E36K (p.Glu36Lys) 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.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- rs1891813847
- ClinGen CA389032064
- ClinVar RCV004513731
- Ensembl rs1891813847
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available