L65L (p.Leu65Leu) variant of SCN8A (Q9UQD0)
L65L (p.Leu65Leu) in SCN8A (Q9UQD0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L65L (p.Leu65Leu) variant details
- p.Leu65Leu
- rs748136961
- gnomAD 12-51663012-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 11.60
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available