K8* (p.Lys8Ter) variant of GNAS (P63092)
K8* (p.Lys8Ter) in GNAS (P63092) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
K8* (p.Lys8Ter) variant details
- p.Lys8Ter
- rs2145914732
- ClinGen CA2573157185
- ClinVar RCV001915812
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available