R663C (p.Arg663Cys) variant of MYH7 (Myosin-7)
R663C (p.Arg663Cys) 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; Myosin storage myopathy; Hypertrophic cardiomyopathy 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R663C (p.Arg663Cys) variant details
- p.Arg663Cys
- rs397516127
- ClinGen CA011543
- NCI-TCGA Cosmic COSV6251
- ClinVar RCV000157358
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Myosin storage myopathy; Hypertrophic cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.82
- AlphaMissense 0.53
- MetaLR 0.85
- MetaSVM 0.91
- CADD 29.30
- PolyPhen-2 0.99
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Myosin storage myopathy; Hypertrophic)
- EBI: Pathogenic (in CMH1)
- UniProt: Pathogenic (in CMH1)
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. (PMID 15358028)
- Cited in: Mutations profile in Chinese patients with hypertrophic cardiomyopathy. (PMID 15563892)