R37W (p.Arg37Trp) variant of DES (Desmin)
R37W (p.Arg37Trp) 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; not provided; Desmin-related myofibrillar myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R37W (p.Arg37Trp) variant details
- p.Arg37Trp
- rs537881554
- ClinGen CA2125022
- ClinVar RCV000250161
- ClinVar RCV000594311
- Uncertain significance
- not specified; not provided; Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.50
- CADD 23.70
- PolyPhen-2 0.68
- SIFT 0.09
- ClinVar: Uncertain significance (not specified; not provided; Desmin-related myofibrillar myopath)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- 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)