G2A (p.Gly2Ala) variant of SCN1B (Q07699)
G2A (p.Gly2Ala) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G2A (p.Gly2Ala) variant details
- p.Gly2Ala
- gnomAD 19-35030825-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.89
- MetaSVM 0.60
- CADD 24.20
- Population evidence available
- Structural context available
- Literature evidence available