G2E (p.Gly2Glu) variant of SCN1B (Q07699)
G2E (p.Gly2Glu) 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.
G2E (p.Gly2Glu) variant details
- p.Gly2Glu
- gnomAD 19-35030825-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.91
- MetaSVM 0.60
- CADD 24.80
- Population evidence available
- Structural context available
- Literature evidence available