N54I (p.Asn54Ile) variant of CALM3 (Calmodulin-3)
N54I (p.Asn54Ile) in CALM3 (Calmodulin-3) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. 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
- Pathogenic
- 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
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)