R249Q (p.Arg249Gln) variant of MYH7 (Myosin-7)
R249Q (p.Arg249Gln) 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 Myopathy, myosin storage, autosomal recessive; Dilated cardiomyopathy 1S; Hypert. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R249Q (p.Arg249Gln) variant details
- p.Arg249Gln
- rs3218713
- ClinGen CA016781
- NCI-TCGA Cosmic COSV6251
- ClinVar RCV000015144
- Pathogenic/Likely pathogenic
- Myopathy, myosin storage, autosomal recessive; Dilated cardiomyopathy 1S; Hypert
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.92
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 0.98
- CADD 28.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Myopathy, myosin storage, autosomal recessive; Dilated cardiomyo)
- EBI: Pathogenic (in CMH1)
- UniProt: Pathogenic (in CMH1)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late… (PMID 10065021)
- Cited in: Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. (PMID 11133230)