Q91Q (p.Gln91Gln) variant of SCN8A (Nav1.6)
Q91Q (p.Gln91Gln) in SCN8A (Nav1.6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Q91Q (p.Gln91Gln) variant details
- p.Gln91Gln
- rs1017697457
- gnomAD 12-51663090-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 10.40
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available