E401K (p.Glu401Lys) variant of DES (Desmin)
E401K (p.Glu401Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
E401K (p.Glu401Lys) variant details
- p.Glu401Lys
- rs57694264
- ClinGen CA284671
- ClinVar RCV000056780
- ClinVar RCV001064294
- Likely pathogenic
- Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Likely pathogenic (Desmin-related myofibrillar myopathy)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- Structural context available
- Cited in: Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. (PMID 16865695)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)