E49* (p.Glu49Ter) variant of CACNA1S (Q13698)
E49* (p.Glu49Ter) in CACNA1S (Q13698) is a protein-truncating change. The record also includes structural context.
E49* (p.Glu49Ter) variant details
- p.Glu49Ter
- Ensembl rs1553254270
- Stop Gained
- Structural context available