E100* (p.Glu100Ter) variant of CACNA1S (Q13698)
E100* (p.Glu100Ter) in CACNA1S (Q13698) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in CMYO18. The record also includes structural context.
E100* (p.Glu100Ter) variant details
- p.Glu100Ter
- Ensembl rs1298520651
- Uncertain significance
- in CMYO18
- Stop Gained
- EBI: uncertain significance (in CMYO18)
- UniProt: Uncertain significance (in CMYO18)
- Structural context available