L5R (p.Leu5Arg) variant of SCN1B (Q07699)
L5R (p.Leu5Arg) 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.
L5R (p.Leu5Arg) variant details
- p.Leu5Arg
- gnomAD 19-35030834-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.71
- ESM-1b 0.78
- AlphaMissense 0.13
- MetaLR 0.92
- MetaSVM 0.90
- CADD 25.70
- Population evidence available
- Structural context available
- Literature evidence available