L89V (p.Leu89Val) variant of SCN8A (Nav1.6)
L89V (p.Leu89Val) in SCN8A (Nav1.6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L89V (p.Leu89Val) variant details
- p.Leu89Val
- TOPMed rs1168281350
- gnomAD rs1168281350
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.63
- MetaSVM 0.05
- CADD 16.70
- Most common in the 1KG:ASW population (allele frequency 0.023)
- Structural context available