T93S (p.Thr93Ser) variant of SCN8A (Nav1.6)
T93S (p.Thr93Ser) in SCN8A (Nav1.6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
T93S (p.Thr93Ser) variant details
- p.Thr93Ser
- TOPMed rs1483873062
- gnomAD rs1483873062
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.89
- MetaSVM 0.88
- CADD 24.30
- Most common in the 1KG:MSL population (allele frequency 0.081)
- Structural context available