Y82* (p.Tyr82Ter) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
Y82* (p.Tyr82Ter) 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.
Y82* (p.Tyr82Ter) variant details
- p.Tyr82Ter
- rs2517906263
- ClinGen CA2580099609
- ClinVar RCV002875947
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available