A78A (p.Ala78Ala) variant of SCN8A (Nav1.6)
A78A (p.Ala78Ala) in SCN8A (Nav1.6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A78A (p.Ala78Ala) variant details
- p.Ala78Ala
- rs769994874
- gnomAD 12-51663051-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 4.58
- Most common in the 1KG:MSL population (allele frequency 0.081)
- Structural context available
- Literature evidence available