L7L (p.Leu7Leu) variant of SCN1B (Q07699)
L7L (p.Leu7Leu) in SCN1B (Q07699) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L7L (p.Leu7Leu) variant details
- p.Leu7Leu
- rs921444794
- gnomAD 19-35030839-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 13.40
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available
- Literature evidence available