R350Q (p.Arg350Gln) variant of DES (Desmin)
R350Q (p.Arg350Gln) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Desmin-related myofibrillar myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R350Q (p.Arg350Gln) variant details
- p.Arg350Gln
- rs57965306
- ClinGen CA2125230
- NCI-TCGA Cosmic COSV1009
- NCI-TCGA Cosmic COSV6466
- Uncertain significance
- Cardiovascular phenotype; not provided; Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.81
- AlphaMissense 0.11
- MetaLR 0.86
- MetaSVM 0.86
- CADD 26.90
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Desmin-related myofibril)
- EBI: Pathogenic (in Kaeser syndrome and MFM1)
- UniProt: Pathogenic (in Kaeser syndrome and MFM1)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)