E26K (p.Glu26Lys) variant of SCN8A (Q9UQD0)
E26K (p.Glu26Lys) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- Ensembl rs1555214267
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.65
- MetaLR 0.96
- MetaSVM 1.09
- CADD 29.80
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available