L13R (p.Leu13Arg) variant of SCN1B (Q07699)
L13R (p.Leu13Arg) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
L13R (p.Leu13Arg) variant details
- p.Leu13Arg
- gnomAD 19-35030858-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.21
- MetaLR 0.93
- MetaSVM 0.74
- CADD 26.00
- Population evidence available
- Structural context available
- Literature evidence available