Q80* (p.Gln80Ter) variant of IDS (Iduronate 2-sulfatase)
Q80* (p.Gln80Ter) in IDS (Iduronate 2-sulfatase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q80* (p.Gln80Ter) variant details
- p.Gln80Ter
- Ensembl rs1569560527
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available