L7S (p.Leu7Ser) variant of SCN1B (Q07699)
L7S (p.Leu7Ser) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L7S (p.Leu7Ser) variant details
- p.Leu7Ser
- gnomAD 19-35030840-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.70
- MetaSVM 0.09
- CADD 19.10
- Population evidence available
- Structural context available
- Literature evidence available