I68M (p.Ile68Met) variant of SCN8A (Nav1.6)
I68M (p.Ile68Met) in SCN8A (Nav1.6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
I68M (p.Ile68Met) variant details
- p.Ile68Met
- gnomAD 12-51663021-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.72
- ESM-1b 0.00
- AlphaMissense 0.57
- MetaLR 0.89
- MetaSVM 0.88
- CADD 24.40
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available