R25H (p.Arg25His) variant of PLN (Phospholamban)
R25H (p.Arg25His) in PLN (Phospholamban) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R25H (p.Arg25His) variant details
- p.Arg25His
- rs1004405095
- ClinGen CA16611886
- ClinVar RCV000460010
- ClinVar RCV000786193
- Uncertain significance
- Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.66
- MetaLR 0.68
- MetaSVM 0.47
- CADD 24.40
- PolyPhen-2 0.41
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)