V60M (p.Val60Met) variant of CASQ2 (Calsequestrin-2)
V60M (p.Val60Met) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
V60M (p.Val60Met) variant details
- p.Val60Met
- TOPMed rs1649201569
- gnomAD rs1649201569
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available