K97T (p.Lys97Thr) variant of CASQ2 (Calsequestrin-2)
K97T (p.Lys97Thr) 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.
K97T (p.Lys97Thr) variant details
- p.Lys97Thr
- rs2526031875
- ClinGen CA341765358
- ClinVar RCV002439799
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available