G54A (p.Gly54Ala) variant of MYPN (Myopalladin)
G54A (p.Gly54Ala) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1KK. The record also includes structural context.
G54A (p.Gly54Ala) variant details
- p.Gly54Ala
- rs2042243361
- ClinGen CA377103731
- ClinVar RCV002574153
- TOPMed rs2042243361
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1KK
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1KK)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available