N54I (p.Asn54Ile) variant of CALM1 (Calmodulin-1)
N54I (p.Asn54Ile) in CALM1 (Calmodulin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Catecholaminergic polymorphic ventricular tachycardia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
N54I (p.Asn54Ile) variant details
- p.Asn54Ile
- rs267607276
- ClinGen CA343809
- ClinVar RCV000032976
- ClinVar RCV000157133
- Likely pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- AlphaMissense 0.11
- MetaLR 0.32
- MetaSVM -0.57
- PolyPhen-2 0.00
- MutPred 0.43
- ClinVar: Likely pathogenic (Catecholaminergic polymorphic ventricular tachycardia 4)
- EBI: Pathogenic (in CPVT4)
- UniProt: Pathogenic (in CPVT4)
- Structural context available
- Cited in: Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. (PMID 23040497)
- Cited in: Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease. (PMID 26164367)