L338R (p.Leu338Arg) variant of DES (Desmin)
L338R (p.Leu338Arg) 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 0.93 / 1. The record also includes published literature and structural context.
L338R (p.Leu338Arg) variant details
- p.Leu338Arg
- rs57496341
- ClinGen CA216999
- ClinVar RCV000056763
- ClinVar RCV000796175
- Pathogenic
- Desmin-related myofibrillar myopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 0.95
- MetaLR 0.95
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.81
- ClinVar: Pathogenic (Desmin-related myofibrillar myopathy)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- Structural context available
- Cited in: Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. (PMID 16865695)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)