L345P (p.Leu345Pro) variant of DES (Desmin)
L345P (p.Leu345Pro) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Desmin-related myofibrillar myopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
L345P (p.Leu345Pro) variant details
- p.Leu345Pro
- rs57639980
- ClinGen CA217003
- ClinVar RCV000056765
- ClinVar RCV001044194
- Pathogenic/Likely pathogenic
- Desmin-related myofibrillar myopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic/Likely pathogenic (Desmin-related myofibrillar myopathy; not provided)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- Structural context available
- Cited in: A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a… (PMID 10545598)
- Cited in: Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large… (PMID 8114783)