L7V (p.Leu7Val) variant of SCN1B (Q07699)
L7V (p.Leu7Val) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- gnomAD 19-35030839-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.04
- MetaLR 0.78
- MetaSVM 0.16
- CADD 17.10
- Population evidence available
- Structural context available
- Literature evidence available