R663S (p.Arg663Ser) variant of MYH7 (Myosin-7)
R663S (p.Arg663Ser) 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; Congenital myopathy with fiber type disproportion. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
R663S (p.Arg663Ser) variant details
- p.Arg663Ser
- rs397516127
- ClinGen CA389049378
- ClinVar RCV001196247
- ClinVar RCV001349517
- Pathogenic/Likely pathogenic
- Hypertrophic cardiomyopathy 1; Congenital myopathy with fiber type disproportion
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- AlphaMissense 0.53
- MetaLR 0.85
- MetaSVM 0.91
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic/Likely pathogenic (Hypertrophic cardiomyopathy 1; Congenital myopathy with fiber ty)
- EBI: Pathogenic (in CMH1)
- UniProt: Pathogenic (in CMH1)
- Structural context available
- Cited in: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular… (PMID 12707239)
- Cited in: Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late… (PMID 10065021)