L59L (p.Leu59Leu) variant of SCN8A (Q9UQD0)
L59L (p.Leu59Leu) in SCN8A (Q9UQD0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L59L (p.Leu59Leu) variant details
- p.Leu59Leu
- rs147027699
- gnomAD 12-51662994-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 12.20
- Population evidence available
- Structural context available
- Literature evidence available