K40* (p.Lys40Ter) variant of SCN9A (Nav1.7)
K40* (p.Lys40Ter) in SCN9A (Nav1.7) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
K40* (p.Lys40Ter) variant details
- p.Lys40Ter
- ESP rs371565974
- ExAC rs371565974
- gnomAD rs371565974
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available