L77V (p.Leu77Val) variant of CASQ2 (Calsequestrin-2)
L77V (p.Leu77Val) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
L77V (p.Leu77Val) variant details
- p.Leu77Val
- ExAC rs781778467
- TOPMed rs781778467
- gnomAD rs781778467
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available