G53E (p.Gly53Glu) variant of MYPN (Myopalladin)
G53E (p.Gly53Glu) 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.
G53E (p.Gly53Glu) variant details
- p.Gly53Glu
- rs2042243303
- ClinGen CA377103726
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10058
- 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