V9A (p.Val9Ala) variant of SCN1B (Q07699)
V9A (p.Val9Ala) 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.
V9A (p.Val9Ala) variant details
- p.Val9Ala
- gnomAD 19-35030846-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.87
- MetaSVM 0.58
- CADD 23.50
- Population evidence available
- Structural context available
- Literature evidence available