E401D (p.Glu401Asp) variant of DES (Desmin)
E401D (p.Glu401Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
E401D (p.Glu401Asp) variant details
- p.Glu401Asp
- rs2125168897
- ClinGen CA350694961
- ClinVar RCV002343849
- ClinVar RCV002541189
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Desmin-related myofibrillar myopathy)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- 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)