E245D (p.Glu245Asp) variant of DES (Desmin)
E245D (p.Glu245Asp) 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; Dilated cardiomyopathy 1I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
E245D (p.Glu245Asp) variant details
- p.Glu245Asp
- rs267607486
- ClinGen CA217085
- ClinVar RCV000056811
- ClinVar RCV002226454
- Pathogenic/Likely pathogenic
- Desmin-related myofibrillar myopathy; not provided; Dilated cardiomyopathy 1I
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- AlphaMissense 0.81
- MetaLR 0.82
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (Desmin-related myofibrillar myopathy; not provided; Dilated card)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- Structural context available
- Cited in: Nebulin binding impedes mutant desmin filament assembly. (PMID 23615443)
- Cited in: Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar… (PMID 25208129)