T93N (p.Thr93Asn) variant of SCN8A (Nav1.6)
T93N (p.Thr93Asn) in SCN8A (Nav1.6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
T93N (p.Thr93Asn) variant details
- p.Thr93Asn
- gnomAD 12-51684175-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.94
- MetaSVM 1.12
- CADD 24.30
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available