E38G (p.Glu38Gly) variant of SCN9A (Nav1.7)
E38G (p.Glu38Gly) in SCN9A (Nav1.7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E38G (p.Glu38Gly) variant details
- p.Glu38Gly
- rs974242226
- ClinGen CA59810423
- ClinVar RCV002261696
- TOPMed rs974242226
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- MetaLR 0.85
- MetaSVM 0.66
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available