N342D (p.Asn342Asp) variant of DES (Desmin)
N342D (p.Asn342Asp) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Desmin-related myofibrillar myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
N342D (p.Asn342Asp) variant details
- p.Asn342Asp
- rs267607482
- ClinGen CA217001
- ClinVar RCV000056764
- ClinVar RCV001380949
- Pathogenic
- Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 0.94
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (Desmin-related myofibrillar myopathy)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- Structural context available
- Cited in: Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. (PMID 10717012)
- Cited in: Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or… (PMID 14648196)