L89L (p.Leu89Leu) variant of SCN8A (Q9UQD0)
L89L (p.Leu89Leu) in SCN8A (Q9UQD0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L89L (p.Leu89Leu) variant details
- p.Leu89Leu
- gnomAD 12-51663082-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 11.50
- Most common in the Non-Finnish European population (allele frequency 0.00063)
- Structural context available
- Literature evidence available