E80* (p.Glu80Ter) variant of SCN10A (Q9Y5Y9)
E80* (p.Glu80Ter) in SCN10A (Q9Y5Y9) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E80* (p.Glu80Ter) variant details
- p.Glu80Ter
- rs1053152886
- ClinGen CA352162579
- ClinVar RCV003216716
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available