F90L (p.Phe90Leu) variant of CALM3 (Calmodulin-3)
F90L (p.Phe90Leu) in CALM3 (Calmodulin-3) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
F90L (p.Phe90Leu) variant details
- p.Phe90Leu
- rs2465708816
- ClinGen CA346719361
- ClinVar RCV003501689
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)