D144E (p.Asp144Glu) variant of CASQ2 (Calsequestrin-2)
D144E (p.Asp144Glu) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
D144E (p.Asp144Glu) variant details
- p.Asp144Glu
- ExAC rs746672938
- TOPMed rs746672938
- gnomAD rs746672938
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available