V8W (p.Val8Trp) variant of SCN1B (Q07699)
V8W (p.Val8Trp) in SCN1B (Q07699) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V8W (p.Val8Trp) variant details
- p.Val8Trp
- gnomAD 19-35030840-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.395
- CADD 18.80
- Population evidence available
- Structural context available
- Literature evidence available