G70G (p.Gly70Gly) variant of SCN8A (Nav1.6)
G70G (p.Gly70Gly) in SCN8A (Nav1.6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G70G (p.Gly70Gly) variant details
- p.Gly70Gly
- gnomAD 12-51663027-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 12.50
- Most common in the 1KG:YRI population (allele frequency 0.0086)
- Structural context available
- Literature evidence available