A7S (p.Ala7Ser) variant of SCN8A (Nav1.6)
A7S (p.Ala7Ser) in SCN8A (Nav1.6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- TOPMed rs896109778
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.83
- MetaSVM 0.74
- CADD 24.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available