E47D (p.Glu47Asp) variant of SCN2A (Nav1.2)
E47D (p.Glu47Asp) in SCN2A (Nav1.2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E47D (p.Glu47Asp) variant details
- p.Glu47Asp
- TOPMed rs1384766755
- gnomAD rs1384766755
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.79
- MetaSVM -0.05
- CADD 19.60
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available