E401G (p.Glu401Gly) variant of DES (Desmin)
E401G (p.Glu401Gly) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Desmin-related myofibrillar myopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
E401G (p.Glu401Gly) variant details
- p.Glu401Gly
- rs1954444202
- ClinGen CA350694957
- ClinVar RCV001245293
- ClinVar RCV005328655
- Likely pathogenic
- Desmin-related myofibrillar myopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.03
- PolyPhen-2 0.58
- SIFT 0.00
- EVE 0.91
- ClinVar: Likely pathogenic (Desmin-related myofibrillar myopathy; Cardiovascular phenotype)
- EBI: Likely pathogenic (in MFM1)
- UniProt: Likely 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)