V8S (p.Val8Ser) variant of SCN1B (Q07699)
V8S (p.Val8Ser) in SCN1B (Q07699) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
V8S (p.Val8Ser) variant details
- p.Val8Ser
- gnomAD 19-35030840-TAGTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.447
- CADD 26.20
- Population evidence available
- Structural context available
- Literature evidence available