L370P (p.Leu370Pro) variant of DES (Desmin)
L370P (p.Leu370Pro) 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; Neurogenic scapuloperoneal syndrome, Kaese. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
L370P (p.Leu370Pro) variant details
- p.Leu370Pro
- rs59308628
- ClinGen CA217018
- ClinVar RCV000056773
- ClinVar RCV001043598
- Likely pathogenic
- Desmin-related myofibrillar myopathy; Neurogenic scapuloperoneal syndrome, Kaese
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Likely pathogenic (Desmin-related myofibrillar myopathy; Neurogenic scapuloperoneal)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- Structural context available
- Cited in: Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal… (PMID 12766977)
- Cited in: Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or… (PMID 14648196)