A30D (p.Ala30Asp) variant of SCN1B (Q07699)
A30D (p.Ala30Asp) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A30D (p.Ala30Asp) variant details
- p.Ala30Asp
- gnomAD 19-35032576-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.89
- CADD 27.00
- Population evidence available
- Structural context available
- Literature evidence available