Q27* (p.Gln27Ter) variant of CPS1 (P31327)
Q27* (p.Gln27Ter) in CPS1 (P31327) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
Q27* (p.Gln27Ter) variant details
- p.Gln27Ter
- rs2469040081
- ClinGen CA350432704
- ClinVar RCV003468541
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available