Q389P (p.Gln389Pro) variant of DES (Desmin)
Q389P (p.Gln389Pro) 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 0.91 / 1. The record also includes published literature and structural context.
Q389P (p.Gln389Pro) variant details
- p.Gln389Pro
- rs121913004
- ClinGen CA217025
- ClinVar RCV000056776
- ClinVar RCV002265563
- Pathogenic
- Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic (Desmin-related myofibrillar myopathy)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- Structural context available
- Cited in: Structural and functional analysis of a new desmin variant causing desmin-related myopathy. (PMID 11668632)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)