G8E (p.Gly8Glu) variant of SCN9A (Nav1.7)
G8E (p.Gly8Glu) in SCN9A (Nav1.7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G8E (p.Gly8Glu) variant details
- p.Gly8Glu
- cosmic curated COSV10732
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- MetaLR 0.93
- MetaSVM 1.04
- CADD 23.90
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available