L81L (p.Leu81Leu) variant of SCN8A (Nav1.6)
L81L (p.Leu81Leu) in SCN8A (Nav1.6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L81L (p.Leu81Leu) variant details
- p.Leu81Leu
- rs1940957150
- gnomAD 12-51663058-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 9.41
- Population evidence available
- Structural context available
- Literature evidence available