R204H (p.Arg204His) variant of MYH7 (Myosin-7)
R204H (p.Arg204His) 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; Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R204H (p.Arg204His) variant details
- p.Arg204His
- rs397516260
- ClinGen CA016546
- NCI-TCGA Cosmic COSV6251
- ClinVar RCV000223767
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.66
- CADD 23.50
- PolyPhen-2 0.55
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Hypertrophic cardiomyopathy 1; Dilated)
- EBI: Pathogenic (in CMH1)
- UniProt: Pathogenic (in CMH1)
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular… (PMID 12707239)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)