Q91K (p.Gln91Lys) variant of SCN8A (Nav1.6)
Q91K (p.Gln91Lys) in SCN8A (Nav1.6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
Q91K (p.Gln91Lys) variant details
- p.Gln91Lys
- ExAC rs762256592
- gnomAD rs762256592
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.57
- MetaSVM -0.12
- CADD 14.00
- Most common in the 1KG:YRI population (allele frequency 0.017)
- Structural context available