R386K (p.Arg386Lys) variant of LMNA (Prelamin-A/C)
R386K (p.Arg386Lys) 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; not provided; Emery-Dreifuss muscular dystro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
R386K (p.Arg386Lys) variant details
- p.Arg386Lys
- rs267607545
- ClinGen CA016734
- ClinVar RCV000057243
- ClinVar RCV003581572
- Pathogenic
- Charcot-Marie-Tooth disease type 2; not provided; Emery-Dreifuss muscular dystro
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease type 2; not provided; Emery-Dreifuss)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- 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: Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial… (PMID 11792809)