G69C (p.Gly69Cys) variant of SCN9A (Nav1.7)
G69C (p.Gly69Cys) in SCN9A (Nav1.7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G69C (p.Gly69Cys) variant details
- p.Gly69Cys
- ESP rs201243874
- ExAC rs201243874
- TOPMed rs201243874
- gnomAD rs201243874
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- MetaLR 0.92
- MetaSVM 0.83
- CADD 22.10
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available