R9C (p.Arg9Cys) variant of PLN (Phospholamban)
R9C (p.Arg9Cys) in PLN (Phospholamban) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Cardiomyopathy; Dilated cardiomyopathy 1P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R9C (p.Arg9Cys) variant details
- p.Arg9Cys
- rs111033559
- ClinGen CA256917
- ClinVar RCV000014606
- ClinVar RCV000183815
- Pathogenic
- not provided; Cardiomyopathy; Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.89
- MetaLR 0.84
- MetaSVM 0.88
- CADD 29.10
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Cardiomyopathy; Dilated cardiomyopathy 1P)
- EBI: Pathogenic (in CMD1P)
- UniProt: Pathogenic (in CMD1P)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid… (PMID 25928149)
- Cited in: Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban. (PMID 25593317)