R350P (p.Arg350Pro) variant of DES (Desmin)
R350P (p.Arg350Pro) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
R350P (p.Arg350Pro) variant details
- p.Arg350Pro
- rs57965306
- ClinGen CA126906
- ClinVar RCV000018329
- ClinVar RCV000056767
- Pathogenic
- Desmin-related myofibrillar myopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 0.11
- MetaLR 0.86
- MetaSVM 0.86
- PolyPhen-2 0.98
- SIFT 0.23
- EVE 0.37
- ClinVar: Pathogenic (Desmin-related myofibrillar myopathy; not provided)
- EBI: Pathogenic (in Kaeser syndrome and MFM1)
- UniProt: Pathogenic (in Kaeser syndrome and MFM1)
- Structural context available
- Cited in: [FAMILIAL SCAPULOPERONEAL MUSCULAR ATROPHY]. (PMID 14326018)
- Cited in: Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in… (PMID 15800015)