Y96* (p.Tyr96Ter) variant of MCCC1 (Q96RQ3)
Y96* (p.Tyr96Ter) in MCCC1 (Q96RQ3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y96* (p.Tyr96Ter) variant details
- p.Tyr96Ter
- rs1012193526
- ClinGen CA355319594
- ClinVar RCV002470112
- ClinVar RCV003600440
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available