C41S (p.Cys41Ser) variant of PLN (Phospholamban)
C41S (p.Cys41Ser) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
C41S (p.Cys41Ser) variant details
- p.Cys41Ser
- rs2534333917
- ClinGen CA365546591
- ClinVar RCV003037184
- Uncertain significance
- Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.90
- MetaLR 0.82
- MetaSVM 0.83
- CADD 25.10
- PolyPhen-2 0.85
- SIFT 0.00
- 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)