R454W (p.Arg454Trp) variant of DES (Desmin)
R454W (p.Arg454Trp) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Desmin-related myofibrillar myopathy; Cardiovascular phenotype; Primary dilated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R454W (p.Arg454Trp) variant details
- p.Arg454Trp
- rs267607490
- ClinGen CA217043
- ClinVar RCV000056789
- ClinVar RCV000155027
- Pathogenic/Likely pathogenic
- Desmin-related myofibrillar myopathy; Cardiovascular phenotype; Primary dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.92
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Desmin-related myofibrillar myopathy; Cardiovascular phenotype;)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. (PMID 17221859)
- Cited in: Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. (PMID 22106715)