E48D (p.Glu48Asp) variant of SCN4A (Nav1.4)
E48D (p.Glu48Asp) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E48D (p.Glu48Asp) variant details
- p.Glu48Asp
- gnomAD rs1235785007
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.19
- CADD 8.90
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available