E361K (p.Glu361Lys) variant of LMNA (Prelamin-A/C)
E361K (p.Glu361Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E361K (p.Glu361Lys) variant details
- p.Glu361Lys
- rs267607634
- ClinGen CA016566
- ClinVar RCV000057229
- ClinVar RCV000504480
- Pathogenic
- Charcot-Marie-Tooth disease type 2; Muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.70
- MetaLR 0.63
- MetaSVM 0.10
- CADD 26.50
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease type 2; Muscular dystrophy)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA… (PMID 20848652)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)