E358K (p.Glu358Lys) variant of LMNA (Prelamin-A/C)
E358K (p.Glu358Lys) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth disease type 2; Muscular dystrophy; 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.
E358K (p.Glu358Lys) variant details
- p.Glu358Lys
- rs60458016
- ClinGen CA016555
- ClinVar RCV000015622
- ClinVar RCV000015623
- Pathogenic
- Charcot-Marie-Tooth disease type 2; Muscular dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease type 2; Muscular dystrophy; not prov)
- EBI: Pathogenic (in EDMD2 and MDCL)
- UniProt: Pathogenic (in EDMD2 and MDCL)
- Structural context available
- Cited in: Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the… (PMID 10939567)
- Cited in: Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. (PMID 11503164)