I48S (p.Ile48Ser) variant of PLN (Phospholamban)
I48S (p.Ile48Ser) 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 structural context.
I48S (p.Ile48Ser) variant details
- p.Ile48Ser
- rs1064796276
- ClinGen CA16618234
- ClinVar RCV000481635
- ClinVar RCV005628255
- Uncertain significance
- Dilated cardiomyopathy 1P
- Missense
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available