G39S (p.Gly39Ser) variant of DES (Desmin)
G39S (p.Gly39Ser) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G39S (p.Gly39Ser) variant details
- p.Gly39Ser
- rs758434755
- ClinGen CA2125027
- ClinVar RCV001360576
- ClinVar RCV003298568
- Uncertain significance
- Cardiovascular phenotype; Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.16
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.96
- ClinVar: Uncertain significance (Cardiovascular phenotype; Desmin-related myofibrillar myopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- 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)