H576R (p.His576Arg) variant of MYH7 (Myosin-7)
H576R (p.His576Arg) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Myopathy, myosin storage, autosomal recessive; Dilated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
H576R (p.His576Arg) variant details
- p.His576Arg
- rs727504238
- ClinGen CA011163
- ClinVar RCV000154204
- ClinVar RCV000172889
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Myopathy, myosin storage, autosomal recessive; Dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.94
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Myopathy, myosin storage, autosomal re)
- EBI: Pathogenic (in CMH1)
- UniProt: Pathogenic (in CMH1)
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. (PMID 15856146)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)