L56L (p.Leu56Leu) variant of SCN2A (Nav1.2)
L56L (p.Leu56Leu) in SCN2A (Nav1.2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L56L (p.Leu56Leu) variant details
- p.Leu56Leu
- gnomAD 2-165295991-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 9.31
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Literature evidence available