D41Y (p.Asp41Tyr) variant of SCN8A (Q9UQD0)
D41Y (p.Asp41Tyr) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D41Y (p.Asp41Tyr) variant details
- p.Asp41Tyr
- ExAC rs759888153
- TOPMed rs759888153
- gnomAD rs759888153
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.56
- ESM-1b 0.15
- AlphaMissense 0.28
- MetaLR 0.81
- MetaSVM 0.66
- CADD 24.40
- Most common in the 1KG:CLM population (allele frequency 0.011)
- Structural context available