D50Y (p.Asp50Tyr) variant of SCN8A (Q9UQD0)
D50Y (p.Asp50Tyr) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D50Y (p.Asp50Tyr) variant details
- p.Asp50Tyr
- gnomAD 12-51662965-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.83
- MetaSVM 0.85
- CADD 24.60
- Population evidence available
- Structural context available
- Literature evidence available