R16S (p.Arg16Ser) variant of DES (Desmin)
R16S (p.Arg16Ser) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Desmin-related myofibrillar myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
R16S (p.Arg16Ser) variant details
- p.Arg16Ser
- rs60798368
- ClinGen CA350682339
- ClinVar RCV001867087
- TOPMed rs60798368
- Uncertain significance
- Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- AlphaMissense 0.97
- MetaLR 0.85
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.14
- MutPred 0.72
- ClinVar: Uncertain significance (Desmin-related myofibrillar myopathy)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- 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)