A6S (p.Ala6Ser) variant of SCN1B (Q07699)
A6S (p.Ala6Ser) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- gnomAD 19-35030836-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.88
- MetaSVM 0.47
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available