T17S (p.Thr17Ser) variant of DES (Desmin)
T17S (p.Thr17Ser) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T17S (p.Thr17Ser) variant details
- p.Thr17Ser
- rs1342928312
- ClinGen CA350682380
- ClinVar RCV001997968
- TOPMed rs1342928312
- Uncertain significance
- Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.27
- AlphaMissense 0.17
- MetaLR 0.34
- MetaSVM -0.63
- CADD 17.80
- PolyPhen-2 0.50
- ClinVar: Uncertain significance (Desmin-related myofibrillar myopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-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)