R904H (p.Arg904His) variant of MYH7 (Myosin-7)
R904H (p.Arg904His) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R904H (p.Arg904His) variant details
- p.Arg904His
- rs397516165
- ClinGen CA012913
- NCI-TCGA Cosmic COSV1008
- ClinVar RCV000208309
- Pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.83
- AlphaMissense 0.49
- MetaLR 0.93
- MetaSVM 1.07
- CADD 27.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Primary dilated cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)