V9G (p.Val9Gly) variant of SCN1B (Q07699)
V9G (p.Val9Gly) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V9G (p.Val9Gly) variant details
- p.Val9Gly
- gnomAD 19-35030846-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.60
- ESM-1b 0.45
- AlphaMissense 0.09
- MetaLR 0.84
- MetaSVM 0.61
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available