E54* (p.Glu54Ter) variant of CACNA1S (Q13698)
E54* (p.Glu54Ter) in CACNA1S (Q13698) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E54* (p.Glu54Ter) variant details
- p.Glu54Ter
- Ensembl rs1553254121
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available