E31D (p.Glu31Asp) variant of SCN1A (Nav1.1)
E31D (p.Glu31Asp) in SCN1A (Nav1.1) 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.
E31D (p.Glu31Asp) variant details
- p.Glu31Asp
- Ensembl rs1684693841
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 20.60
- PolyPhen-2 0.05
- SIFT 0.07
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available