R1193H (p.Arg1193His) variant of MYH7 (Myosin-7)
R1193H (p.Arg1193His) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R1193H (p.Arg1193His) variant details
- p.Arg1193His
- rs397516187
- ClinGen CA013815
- ClinVar RCV000158611
- ClinVar RCV001059046
- Likely pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.92
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Primary dilated cardiomyopathy)
- EBI: Pathogenic (in CMD1S)
- UniProt: Pathogenic (in CMD1S)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)