R406W (p.Arg406Trp) variant of DES (Desmin)
R406W (p.Arg406Trp) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Desmin-related myofibrillar myopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
R406W (p.Arg406Trp) variant details
- p.Arg406Trp
- rs121913003
- ClinGen CA257646
- ClinVar RCV000056781
- ClinVar RCV000627795
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Desmin-related myofibrillar myopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Desmin-related myofibrillar myopathy;)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- Structural context available
- Cited in: Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. (PMID 10717012)
- Cited in: Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation. (PMID 10905661)