L51P (p.Leu51Pro) variant of PLN (Phospholamban)
L51P (p.Leu51Pro) in PLN (Phospholamban) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Dilated cardiomyopathy 1P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
L51P (p.Leu51Pro) variant details
- p.Leu51Pro
- rs397516783
- ClinGen CA134573
- ClinVar RCV000037579
- ClinVar RCV002513479
- Uncertain significance
- not specified; Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.94
- MetaLR 0.85
- MetaSVM 0.90
- CADD 28.80
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Dilated cardiomyopathy 1P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)