F36L (p.Phe36Leu) variant of SCN1B (Q07699)
F36L (p.Phe36Leu) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
F36L (p.Phe36Leu) variant details
- p.Phe36Leu
- gnomAD 19-35032595-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 1.00
- MetaLR 0.09
- MetaSVM -1.09
- CADD 27.80
- Population evidence available
- Structural context available
- Literature evidence available