Q83* (p.Gln83Ter) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
Q83* (p.Gln83Ter) in DEPDC5 (GATOR1 complex protein DEPDC5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q83* (p.Gln83Ter) variant details
- p.Gln83Ter
- rs2148103774
- ClinGen CA411281463
- cosmic curated COSV56706
- ClinVar RCV001386733
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available