L4Q (p.Leu4Gln) variant of SCN1B (Q07699)
L4Q (p.Leu4Gln) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L4Q (p.Leu4Gln) variant details
- p.Leu4Gln
- gnomAD 19-35030831-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.92
- MetaSVM 0.96
- CADD 25.20
- Population evidence available
- Structural context available
- Literature evidence available