L43A (p.Leu43Ala) variant of PLN (Phospholamban)
L43A (p.Leu43Ala) in PLN (Phospholamban) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
L43A (p.Leu43Ala) variant details
- p.Leu43Ala
- rs1779074612
- ClinGen CA1093656688
- ClinVar RCV002430343
- ClinVar RCV003099900
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)