M1T (p.Met1Thr) variant of DES (Desmin)
M1T (p.Met1Thr) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Desmin-related myofibrillar myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2125165615
- ClinGen CA350681909
- ClinVar RCV001377481
- Likely pathogenic
- Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- MetaLR 0.69
- MetaSVM 0.51
- PolyPhen-2 0.93
- SIFT 0.00
- MutPred 0.97
- ClinVar: Likely pathogenic (Desmin-related myofibrillar myopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)