L22L (p.Leu22Leu) variant of SCN8A (Nav1.6)
L22L (p.Leu22Leu) in SCN8A (Nav1.6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L22L (p.Leu22Leu) variant details
- p.Leu22Leu
- gnomAD 12-51662881-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 12.70
- Population evidence available
- Structural context available
- Literature evidence available