R127C (p.Arg127Cys) variant of DES (Desmin)
R127C (p.Arg127Cys) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Desmin-related myofibrillar myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R127C (p.Arg127Cys) variant details
- p.Arg127Cys
- rs868157645
- ClinGen CA65981208
- ClinVar RCV002842252
- Ensembl rs868157645
- Likely pathogenic
- Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.96
- AlphaMissense 0.88
- MetaLR 0.92
- MetaSVM 1.08
- CADD 33.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Desmin-related myofibrillar myopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)