K32E (p.Lys32Glu) variant of LMNA (Prelamin-A/C)
K32E (p.Lys32Glu) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease type 2; Congenital muscular dystrophy due to LMNA mu. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
K32E (p.Lys32Glu) variant details
- p.Lys32Glu
- rs1553261891
- ClinGen CA342807424
- ClinVar RCV000529491
- ClinVar RCV000785916
- Uncertain significance
- Charcot-Marie-Tooth disease type 2; Congenital muscular dystrophy due to LMNA mu
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)