L43F (p.Leu43Phe) variant of PLN (Phospholamban)
L43F (p.Leu43Phe) 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 record also includes published literature and structural context.
L43F (p.Leu43Phe) variant details
- p.Leu43Phe
- rs2534334022
- ClinGen CA365546675
- ClinVar RCV003628221
- Uncertain significance
- Dilated cardiomyopathy 1P
- Missense
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)