R28L (p.Arg28Leu) variant of SCN8A (Nav1.6)
R28L (p.Arg28Leu) in SCN8A (Nav1.6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R28L (p.Arg28Leu) variant details
- p.Arg28Leu
- gnomAD 12-51662900-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.28
- MetaLR 0.88
- MetaSVM 0.96
- CADD 24.60
- Most common in the 1KG:YRI population (allele frequency 0.017)
- Structural context available
- Literature evidence available