T442I (p.Thr442Ile) variant of DES (Desmin)
T442I (p.Thr442Ile) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Desmin-related myofibrillar myopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
T442I (p.Thr442Ile) variant details
- p.Thr442Ile
- rs121913005
- ClinGen CA217036
- ClinVar RCV000056784
- ClinVar RCV000811753
- Pathogenic
- Desmin-related myofibrillar myopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- AlphaMissense 0.19
- MetaLR 0.83
- MetaSVM 0.78
- PolyPhen-2 0.41
- SIFT 0.21
- MutPred 0.34
- ClinVar: Pathogenic (Desmin-related myofibrillar myopathy; not provided)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- Structural context available
- Cited in: Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. (PMID 17221859)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)