D47G (p.Asp47Gly) variant of SCN8A (Nav1.6)
D47G (p.Asp47Gly) in SCN8A (Nav1.6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D47G (p.Asp47Gly) variant details
- p.Asp47Gly
- ExAC rs764608088
- gnomAD rs764608088
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.79
- MetaSVM 0.48
- CADD 22.90
- Most common in the 1KG:CLM population (allele frequency 0.011)
- Structural context available