Y20C (p.Tyr20Cys) variant of MYPN (Myopalladin)
Y20C (p.Tyr20Cys) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of MYPN-related myopathy; Dilated cardiomyopathy 1KK; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Y20C (p.Tyr20Cys) variant details
- p.Tyr20Cys
- rs140148105
- ClinGen CA143769
- ClinVar RCV000024504
- ClinVar RCV000043545
- Conflicting interpretations
- MYPN-related myopathy; Dilated cardiomyopathy 1KK; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.53
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (MYPN-related myopathy; Dilated cardiomyopathy 1KK; Cardiovascula)
- EBI: Pathogenic (in CMH22 and CMD1KK)
- UniProt: Pathogenic (in CMH22 and CMD1KK)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. (PMID 22286171)
- Cited in: Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. (PMID 18006477)