G10A (p.Gly10Ala) variant of SCN1B (Q07699)
G10A (p.Gly10Ala) in SCN1B (Q07699) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G10A (p.Gly10Ala) variant details
- p.Gly10Ala
- gnomAD 19-35030846-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 25.10
- Population evidence available
- Structural context available
- Literature evidence available