R9L (p.Arg9Leu) variant of PLN (Phospholamban)
R9L (p.Arg9Leu) in PLN (Phospholamban) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dilated cardiomyopathy 1P. The record also includes variant effect predictions, published literature, and structural context.
R9L (p.Arg9Leu) variant details
- p.Arg9Leu
- UniProt VAR 072926
- Likely pathogenic
- Dilated cardiomyopathy 1P
- Missense
- MetaLR 0.78
- MetaSVM 0.70
- SIFT 0.00
- ClinVar: Likely pathogenic (Dilated cardiomyopathy 1P)
- EBI: Pathogenic (in CMD1P)
- UniProt: Pathogenic (in CMD1P)
- Structural context available
- Cited in: Mutations in the human phospholamban gene in patients with heart failure. (PMID 22137083)
- Cited in: Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. (PMID 22707725)