D50V (p.Asp50Val) variant of SCN8A (Q9UQD0)
D50V (p.Asp50Val) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
D50V (p.Asp50Val) variant details
- p.Asp50Val
- gnomAD 12-51662966-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.54
- ESM-1b 0.96
- AlphaMissense 0.15
- MetaLR 0.77
- MetaSVM 0.50
- CADD 24.50
- Population evidence available
- Structural context available
- Literature evidence available