Y52* (p.Tyr52Ter) variant of ABCC2 (Q92887)
Y52* (p.Tyr52Ter) in ABCC2 (Q92887) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y52* (p.Tyr52Ter) variant details
- p.Tyr52Ter
- rs1554845888
- ClinGen CA378100916
- ClinVar RCV000594763
- ClinVar RCV003953002
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available