G23D (p.Gly23Asp) variant of DES (Desmin)
G23D (p.Gly23Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G23D (p.Gly23Asp) variant details
- p.Gly23Asp
- rs3903257
- ClinGen CA2125014
- ClinVar RCV003196286
- ClinVar RCV003779622
- Uncertain significance
- Cardiovascular phenotype; Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.27
- CADD 17.60
- PolyPhen-2 0.19
- SIFT 0.27
- ClinVar: Uncertain significance (Cardiovascular phenotype; Desmin-related myofibrillar myopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-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)