A6G (p.Ala6Gly) variant of SCN1B (Q07699)
A6G (p.Ala6Gly) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A6G (p.Ala6Gly) variant details
- p.Ala6Gly
- gnomAD 19-35030837-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.91
- MetaSVM 0.56
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available