R10C (p.Arg10Cys) variant of DES (Desmin)
R10C (p.Arg10Cys) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R10C (p.Arg10Cys) variant details
- p.Arg10Cys
- rs1196125127
- ClinGen CA350682181
- ClinVar RCV001823813
- ClinVar RCV001869824
- Uncertain significance
- Desmin-related myofibrillar myopathy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.62
- AlphaMissense 0.29
- MetaLR 0.47
- MetaSVM -0.21
- CADD 29.50
- PolyPhen-2 0.10
- ClinVar: Uncertain significance (Desmin-related myofibrillar myopathy; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)