R25C (p.Arg25Cys) variant of PLN (Phospholamban)
R25C (p.Arg25Cys) 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 provided; Dilated cardiomyopathy 1P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R25C (p.Arg25Cys) variant details
- p.Arg25Cys
- rs761056344
- ClinGen CA335503
- NCI-TCGA Cosmic COSV1006
- NCI-TCGA Cosmic COSV6264
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.64
- MetaLR 0.68
- MetaSVM 0.45
- CADD 25.30
- PolyPhen-2 0.49
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)