S532P (p.Ser532Pro) variant of MYH7 (Myosin-7)
S532P (p.Ser532Pro) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
S532P (p.Ser532Pro) variant details
- p.Ser532Pro
- rs121913642
- ClinGen CA011011
- ClinVar RCV000015164
- ClinVar RCV000211832
- Pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.95
- CADD 29.40
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Pathogenic (Primary dilated cardiomyopathy)
- EBI: Pathogenic (in CMD1S)
- UniProt: Pathogenic (in CMD1S)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. (PMID 11106718)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)