K68Q (p.Lys68Gln) variant of CASQ2 (Calsequestrin-2)
K68Q (p.Lys68Gln) 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.
K68Q (p.Lys68Gln) variant details
- p.Lys68Gln
- rs2526105960
- ClinGen CA341767031
- ClinVar RCV004508311
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available