E15Q (p.Glu15Gln) variant of SCN4A (Nav1.4)
E15Q (p.Glu15Gln) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E15Q (p.Glu15Gln) variant details
- p.Glu15Gln
- 1000Genomes rs559424913
- ExAC rs559424913
- gnomAD rs559424913
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.28
- CADD 11.70
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available