E15K (p.Glu15Lys) variant of SCN4A (Nav1.4)
E15K (p.Glu15Lys) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- 1000Genomes rs559424913
- ExAC rs559424913
- gnomAD rs559424913
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.35
- CADD 17.80
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available