A11G (p.Ala11Gly) variant of SCN1B (Q07699)
A11G (p.Ala11Gly) in SCN1B (Q07699) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A11G (p.Ala11Gly) variant details
- p.Ala11Gly
- gnomAD 19-35030848-GGC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 26.50
- Population evidence available
- Structural context available
- Literature evidence available