L385P (p.Leu385Pro) variant of DES (Desmin)
L385P (p.Leu385Pro) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Limb-girdle muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
L385P (p.Leu385Pro) variant details
- p.Leu385Pro
- rs57955682
- ClinGen CA217023
- ClinVar RCV000056775
- ClinVar RCV002265562
- Likely pathogenic
- Limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Likely pathogenic (Limb-girdle muscular dystrophy)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- Structural context available
- Cited in: A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates. (PMID 11061256)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)