R37L (p.Arg37Leu) variant of DES (Desmin)
R37L (p.Arg37Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R37L (p.Arg37Leu) variant details
- p.Arg37Leu
- rs1954363342
- ClinGen CA350682944
- ClinVar RCV001241290
- Ensembl rs1954363342
- Uncertain significance
- Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.54
- CADD 20.70
- PolyPhen-2 0.21
- SIFT 0.19
- ClinVar: Uncertain significance (Desmin-related myofibrillar myopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)