E65G (p.Glu65Gly) variant of LMNA (Prelamin-A/C)
E65G (p.Glu65Gly) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
E65G (p.Glu65Gly) variant details
- p.Glu65Gly
- rs2102818172
- ClinGen CA342808163
- ClinVar RCV001387324
- ClinVar RCV005635147
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- ESM-1b 1.00
- AlphaMissense 0.79
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease type 2; not provided)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Structural context available
- Cited in: Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. (PMID 14684700)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)