Q348P (p.Gln348Pro) variant of DES (Desmin)
Q348P (p.Gln348Pro) 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 0.83 / 1. The record also includes published literature and structural context.
Q348P (p.Gln348Pro) variant details
- p.Gln348Pro
- rs1411703397
- ClinGen CA350693785
- ClinVar RCV002265873
- gnomAD rs1411703397
- Pathogenic
- Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- AlphaMissense 0.86
- MetaLR 0.82
- MetaSVM 0.83
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (Desmin-related myofibrillar myopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)