Y88C (p.Tyr88Cys) variant of SCN8A (Q9UQD0)
Y88C (p.Tyr88Cys) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
Y88C (p.Tyr88Cys) variant details
- p.Tyr88Cys
- TOPMed rs1395637241
- gnomAD rs1395637241
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.97
- MetaSVM 1.09
- CADD 28.80
- Most common in the 1KG:YRI population (allele frequency 0.0086)
- Structural context available