T93A (p.Thr93Ala) variant of SCN8A (Nav1.6)
T93A (p.Thr93Ala) in SCN8A (Nav1.6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
T93A (p.Thr93Ala) variant details
- p.Thr93Ala
- gnomAD 12-51684174-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.80
- MetaLR 0.92
- MetaSVM 1.05
- CADD 24.50
- Population evidence available
- Structural context available
- Literature evidence available