E46G (p.Glu46Gly) variant of SCN1A (Nav1.1)
E46G (p.Glu46Gly) in SCN1A (Nav1.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E46G (p.Glu46Gly) variant details
- p.Glu46Gly
- gnomAD rs1344895276
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 26.70
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available