V9F (p.Val9Phe) variant of SCN1B (Q07699)
V9F (p.Val9Phe) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V9F (p.Val9Phe) variant details
- p.Val9Phe
- gnomAD 19-35030845-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.90
- MetaSVM 0.57
- CADD 25.10
- Population evidence available
- Structural context available
- Literature evidence available