E29D (p.Glu29Asp) variant of SCN1B (Q07699)
E29D (p.Glu29Asp) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E29D (p.Glu29Asp) variant details
- p.Glu29Asp
- gnomAD 19-35032574-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.72
- ESM-1b 0.66
- AlphaMissense 0.88
- MetaLR 0.87
- MetaSVM 0.83
- CADD 25.30
- Population evidence available
- Structural context available
- Literature evidence available