E120K (p.Glu120Lys) variant of CALM3 (Calmodulin-3)
E120K (p.Glu120Lys) in CALM3 (Calmodulin-3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
E120K (p.Glu120Lys) variant details
- p.Glu120Lys
- rs2503459716
- ClinGen CA390690262
- ClinVar RCV002299569
- ClinVar RCV005626634
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)