L5Q (p.Leu5Gln) variant of SCN1B (Q07699)
L5Q (p.Leu5Gln) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L5Q (p.Leu5Gln) variant details
- p.Leu5Gln
- gnomAD 19-35030834-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.92
- MetaSVM 0.91
- CADD 25.10
- Population evidence available
- Structural context available
- Literature evidence available