R858C (p.Arg858Cys) variant of MYH7 (Myosin-7)
R858C (p.Arg858Cys) 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 Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Co. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R858C (p.Arg858Cys) variant details
- p.Arg858Cys
- rs2754158
- ClinGen CA012656
- ClinVar RCV000201448
- ClinVar RCV000225738
- Pathogenic/Likely pathogenic
- Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Co
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.63
- AlphaMissense 0.15
- MetaLR 0.80
- MetaSVM 0.72
- CADD 24.60
- PolyPhen-2 0.99
- ClinVar: Pathogenic/Likely pathogenic (Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosom)
- EBI: Pathogenic (in CMH1)
- UniProt: Pathogenic (in CMH1)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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: [Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene]. (PMID 16938236)