V9S (p.Val9Ser) variant of SCN1B (Q07699)
V9S (p.Val9Ser) in SCN1B (Q07699) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V9S (p.Val9Ser) variant details
- p.Val9Ser
- gnomAD 19-35030843-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.398
- CADD 24.90
- Population evidence available
- Structural context available
- Literature evidence available