E52K (p.Glu52Lys) variant of MYPN (Myopalladin)
E52K (p.Glu52Lys) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1KK. The record also includes structural context.
E52K (p.Glu52Lys) variant details
- p.Glu52Lys
- rs2042243248
- ClinGen CA377103713
- ClinVar RCV001049135
- Ensembl rs2042243248
- Uncertain significance
- Dilated cardiomyopathy 1KK
- Missense
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1KK)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available