A78S (p.Ala78Ser) variant of SCN8A (Q9UQD0)
A78S (p.Ala78Ser) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A78S (p.Ala78Ser) variant details
- p.Ala78Ser
- ExAC rs746834655
- gnomAD rs746834655
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.52
- MetaSVM -0.04
- CADD 20.30
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available