T17P (p.Thr17Pro) variant of DES (Desmin)
T17P (p.Thr17Pro) 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 0.43 / 1. The record also includes published literature and structural context.
T17P (p.Thr17Pro) variant details
- p.Thr17Pro
- rs1342928312
- ClinGen CA350682368
- ClinVar RCV003033579
- Uncertain significance
- Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.17
- MetaLR 0.34
- MetaSVM -0.63
- PolyPhen-2 0.50
- SIFT 0.47
- MutPred 0.50
- ClinVar: Uncertain significance (Desmin-related myofibrillar myopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)