G27D (p.Gly27Asp) variant of DES (Desmin)
G27D (p.Gly27Asp) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G27D (p.Gly27Asp) variant details
- p.Gly27Asp
- rs1575012966
- ClinGen CA350682712
- ClinVar RCV000799121
- Ensembl rs1575012966
- Uncertain significance
- Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.38
- CADD 22.30
- PolyPhen-2 0.07
- SIFT 0.08
- ClinVar: Uncertain significance (Desmin-related myofibrillar myopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-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)