V14M (p.Val14Met) variant of SCN1B (Q07699)
V14M (p.Val14Met) 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.
V14M (p.Val14Met) variant details
- p.Val14Met
- gnomAD 19-35030860-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.50
- ESM-1b 0.01
- AlphaMissense 0.42
- MetaLR 0.93
- MetaSVM 0.97
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available