G10C (p.Gly10Cys) variant of SCN1B (Q07699)
G10C (p.Gly10Cys) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G10C (p.Gly10Cys) variant details
- p.Gly10Cys
- gnomAD 19-35030848-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.87
- MetaSVM 0.57
- CADD 24.10
- Population evidence available
- Structural context available
- Literature evidence available