A3E (p.Ala3Glu) variant of SCN8A (Q9UQD0)
A3E (p.Ala3Glu) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- gnomAD 12-51662825-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.40
- MetaLR 0.70
- MetaSVM 0.39
- CADD 20.80
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available