R68* (p.Arg68Ter) variant of CACNA1A (O00555)
R68* (p.Arg68Ter) in CACNA1A (O00555) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
R68* (p.Arg68Ter) variant details
- p.Arg68Ter
- rs2513708889
- ClinGen CA404970984
- ClinVar RCV002467206
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available