R383C (p.Arg383Cys) variant of DES (Desmin)
R383C (p.Arg383Cys) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Desmin-related myofibrillar myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R383C (p.Arg383Cys) variant details
- p.Arg383Cys
- rs748945548
- ClinGen CA2125248
- ClinVar RCV001043088
- ClinVar RCV001528706
- Uncertain significance
- not specified; Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.78
- AlphaMissense 0.41
- MetaLR 0.82
- MetaSVM 0.76
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not specified; Desmin-related myofibrillar myopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)