Q71* (p.Gln71Ter) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
Q71* (p.Gln71Ter) 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.
Q71* (p.Gln71Ter) variant details
- p.Gln71Ter
- rs2148103123
- ClinGen CA411281243
- cosmic curated COSV56691
- ClinVar RCV001885441
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available