L5W (p.Leu5Trp) variant of SCN1B (Q07699)
L5W (p.Leu5Trp) in SCN1B (Q07699) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L5W (p.Leu5Trp) variant details
- p.Leu5Trp
- gnomAD 19-35030831-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 27.20
- Population evidence available
- Structural context available
- Literature evidence available