R9H (p.Arg9His) variant of PLN (Phospholamban)
R9H (p.Arg9His) in PLN (Phospholamban) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; Dilated cardiomyopathy 1P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R9H (p.Arg9His) variant details
- p.Arg9His
- rs754782171
- ClinGen CA335497
- ClinVar RCV000183816
- ClinVar RCV001207506
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.91
- MetaLR 0.84
- MetaSVM 0.87
- CADD 29.40
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Dilated cardiomyopathy)
- EBI: Pathogenic (in CMD1P)
- UniProt: Pathogenic (in CMD1P)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- 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)