D96Y (p.Asp96Tyr) variant of CALM3 (Calmodulin-3)
D96Y (p.Asp96Tyr) in CALM3 (Calmodulin-3) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
D96Y (p.Asp96Tyr) variant details
- p.Asp96Tyr
- rs2503459594
- ClinGen CA390690100
- ClinVar RCV003025983
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)