R16C (p.Arg16Cys) variant of DES (Desmin)
R16C (p.Arg16Cys) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Desmin-related myofibrillar myopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R16C (p.Arg16Cys) variant details
- p.Arg16Cys
- rs60798368
- ClinGen CA217072
- ClinVar RCV000056802
- ClinVar RCV000239680
- Conflicting interpretations
- Desmin-related myofibrillar myopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.90
- AlphaMissense 0.97
- MetaLR 0.85
- MetaSVM 0.84
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Desmin-related myofibrillar myopathy; not provided)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects. (PMID 16376610)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)