Q23* (p.Gln23Ter) variant of AGXT (P21549)
Q23* (p.Gln23Ter) in AGXT (P21549) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements and structural context.
Q23* (p.Gln23Ter) variant details
- p.Gln23Ter
- rs1575707182
- ClinGen CA351312936
- ClinVar RCV000810788
- Ensembl rs1575707182
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- AGXT complementation assay *2 B: score 0.797