Q10E (p.Gln10Glu) variant of SCN9A (Nav1.7)
Q10E (p.Gln10Glu) in SCN9A (Nav1.7) 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.
Q10E (p.Gln10Glu) variant details
- p.Gln10Glu
- ExAC rs781060177
- gnomAD rs781060177
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- MetaLR 0.48
- MetaSVM -0.17
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available