C46R (p.Cys46Arg) variant of PLN (Phospholamban)
C46R (p.Cys46Arg) in PLN (Phospholamban) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
C46R (p.Cys46Arg) variant details
- p.Cys46Arg
- rs2534334077
- ClinGen CA365546704
- ClinVar RCV003627284
- Uncertain significance
- Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.86
- MetaLR 0.55
- MetaSVM 0.28
- CADD 24.50
- PolyPhen-2 0.16
- SIFT 0.03
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)