L44P (p.Leu44Pro) variant of PLN (Phospholamban)
L44P (p.Leu44Pro) 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; Dilated cardiomyopathy 1P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L44P (p.Leu44Pro) variant details
- p.Leu44Pro
- rs794729210
- ClinGen CA275472
- ClinVar RCV000184030
- ClinVar RCV001852380
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.94
- MetaLR 0.85
- MetaSVM 0.90
- CADD 27.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)