E413K (p.Glu413Lys) variant of DES (Desmin)
E413K (p.Glu413Lys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
E413K (p.Glu413Lys) variant details
- p.Glu413Lys
- rs61726467
- ClinGen CA284673
- ClinVar RCV000056782
- ClinVar RCV000685786
- Pathogenic/Likely pathogenic
- Desmin-related myofibrillar myopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 0.99
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic/Likely pathogenic (Desmin-related myofibrillar myopathy; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies [RETIRED]: report of… (PMID 25313375)