A6D (p.Ala6Asp) variant of SCN1B (Q07699)
A6D (p.Ala6Asp) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A6D (p.Ala6Asp) variant details
- p.Ala6Asp
- gnomAD 19-35030837-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.47
- MetaLR 0.91
- MetaSVM 0.72
- CADD 24.70
- Population evidence available
- Structural context available
- Literature evidence available