E80* (p.Glu80Ter) variant of XPA (P23025)
E80* (p.Glu80Ter) in XPA (P23025) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E80* (p.Glu80Ter) variant details
- p.Glu80Ter
- rs2490237785
- ClinGen CA374188102
- ClinVar RCV003579166
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available