L5P (p.Leu5Pro) variant of SCN1B (Q07699)
L5P (p.Leu5Pro) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- gnomAD 19-35030834-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.08
- MetaLR 0.85
- MetaSVM 0.66
- CADD 23.40
- Population evidence available
- Structural context available
- Literature evidence available