A2V (p.Ala2Val) variant of SCN8A (Q9UQD0)
A2V (p.Ala2Val) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 12-51662822-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.79
- ESM-1b 0.21
- AlphaMissense 0.78
- MetaLR 0.94
- MetaSVM 1.08
- CADD 26.20
- Population evidence available
- Structural context available
- Literature evidence available