F90L (p.Phe90Leu) variant of CALM1 (Calmodulin-1)
F90L (p.Phe90Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
F90L (p.Phe90Leu) variant details
- p.Phe90Leu
- rs730882253
- ClinGen CA186017
- ClinVar RCV000162064
- UniProt VAR 073275
- Pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 4; Long QT syndrome 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.95
- MetaLR 0.87
- MetaSVM 0.90
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.00
- 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: A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. (PMID 24076290)
- Cited in: Altered RyR2 regulation by the calmodulin F90L mutation associated with idiopathic ventricular fibrillation and early… (PMID 25036739)