G232E (p.Gly232Glu) variant of LMNA (Prelamin-A/C)
G232E (p.Gly232Glu) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Charcot-Marie-Tooth disease type 2; Emery-Dreifuss muscular dystrophy 2, autosom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G232E (p.Gly232Glu) variant details
- p.Gly232Glu
- rs57207746
- ClinGen CA018472
- ClinVar RCV000057445
- ClinVar RCV000201054
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease type 2; Emery-Dreifuss muscular dystrophy 2, autosom
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- ESM-1b 1.00
- AlphaMissense 0.95
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease type 2; Emery-Dreifuss muscular dyst)
- 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: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)