E59K (p.Glu59Lys) variant of SCN4A (Nav1.4)
E59K (p.Glu59Lys) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
E59K (p.Glu59Lys) variant details
- p.Glu59Lys
- TOPMed rs1555605060
- gnomAD rs1555605060
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.64
- CADD 22.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available