L5V (p.Leu5Val) variant of SCN1B (Q07699)
L5V (p.Leu5Val) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L5V (p.Leu5Val) variant details
- p.Leu5Val
- gnomAD 19-35030833-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.90
- MetaSVM 0.77
- CADD 24.10
- Population evidence available
- Structural context available
- Literature evidence available