E60D (p.Glu60Asp) variant of SCN8A (Q9UQD0)
E60D (p.Glu60Asp) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E60D (p.Glu60Asp) variant details
- p.Glu60Asp
- ExAC rs778905289
- gnomAD rs778905289
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.89
- MetaSVM 0.77
- CADD 21.10
- Most common in the 1KG:YRI population (allele frequency 0.017)
- Structural context available