V8G (p.Val8Gly) variant of SCN1B (Q07699)
V8G (p.Val8Gly) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V8G (p.Val8Gly) variant details
- p.Val8Gly
- gnomAD 19-35030843-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.63
- ESM-1b 0.52
- AlphaMissense 0.10
- MetaLR 0.81
- MetaSVM 0.47
- CADD 25.70
- Population evidence available
- Structural context available
- Literature evidence available