E49K (p.Glu49Lys) variant of SCN10A (Nav1.8)
E49K (p.Glu49Lys) in SCN10A (Nav1.8) 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.
E49K (p.Glu49Lys) variant details
- p.Glu49Lys
- gnomAD rs866362615
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available