G27S (p.Gly27Ser) variant of DES (Desmin)
G27S (p.Gly27Ser) 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; Desmin-related myofibrillar myopathy; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G27S (p.Gly27Ser) variant details
- p.Gly27Ser
- rs727504877
- ClinGen CA184448
- ClinVar RCV000156244
- ClinVar RCV000700537
- Uncertain significance
- Cardiovascular phenotype; Desmin-related myofibrillar myopathy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.32
- CADD 22.30
- PolyPhen-2 0.07
- SIFT 0.82
- ClinVar: Uncertain significance (Cardiovascular phenotype; Desmin-related myofibrillar myopathy;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)