E96* (p.Glu96Ter) variant of CACNA1A (O00555)
E96* (p.Glu96Ter) in CACNA1A (O00555) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E96* (p.Glu96Ter) variant details
- p.Glu96Ter
- rs2513708527
- ClinGen CA404970791
- ClinVar RCV003805033
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)