L13L (p.Leu13Leu) variant of SCN1B (Q07699)
L13L (p.Leu13Leu) in SCN1B (Q07699) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L13L (p.Leu13Leu) variant details
- p.Leu13Leu
- gnomAD 19-35030857-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 14.20
- Most common in the REMAINING population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available