E48K (p.Glu48Lys) variant of SCN10A (Nav1.8)
E48K (p.Glu48Lys) 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.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- rs1433639626
- ClinGen CA352162988
- ClinVar RCV003186695
- gnomAD rs1433639626
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available