L76L (p.Leu76Leu) variant of SCN8A (Q9UQD0)
L76L (p.Leu76Leu) in SCN8A (Q9UQD0) 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.
L76L (p.Leu76Leu) variant details
- p.Leu76Leu
- rs1259295421
- gnomAD 12-51663043-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 11.40
- Population evidence available
- Structural context available
- Literature evidence available