E20* (p.Glu20Ter) variant of CASQ2 (Calsequestrin-2)
E20* (p.Glu20Ter) in CASQ2 (Calsequestrin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E20* (p.Glu20Ter) variant details
- p.Glu20Ter
- rs2101130710
- ClinGen CA341767353
- ClinVar RCV002224481
- Ensembl rs2101130710
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available