V9I (p.Val9Ile) variant of SCN1B (Q07699)
V9I (p.Val9Ile) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V9I (p.Val9Ile) variant details
- p.Val9Ile
- gnomAD 19-35030845-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.86
- MetaSVM 0.40
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available