E59D (p.Glu59Asp) variant of SCN4A (Nav1.4)
E59D (p.Glu59Asp) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E59D (p.Glu59Asp) variant details
- p.Glu59Asp
- 1000Genomes rs199752895
- ExAC rs199752895
- gnomAD rs199752895
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.61
- CADD 23.60
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available