F142L (p.Phe142Leu) variant of CALM1 (Calmodulin-1)
F142L (p.Phe142Leu) in CALM1 (Calmodulin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Catecholaminergic polymorphic ventricular tachycardia 4; Long QT syndrome 14; Ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
F142L (p.Phe142Leu) variant details
- p.Phe142Leu
- rs199744595
- ClinGen CA390690455
- ClinVar RCV001235389
- UniProt VAR 073282
- Pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 4; Long QT syndrome 14; Ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.64
- MetaLR 0.40
- MetaSVM -0.18
- CADD 29.60
- PolyPhen-2 0.86
- SIFT 0.87
- ClinVar: Pathogenic (Catecholaminergic polymorphic ventricular tachycardia 4; Long QT)
- EBI: Pathogenic (in LQT14)
- UniProt: Pathogenic (in LQT14)
- Population evidence available
- Structural context available
- Cited in: Calmodulin mutations associated with recurrent cardiac arrest in infants. (PMID 23388215)
- Cited in: Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease. (PMID 26164367)