E33G (p.Glu33Gly) variant of LMNA (Prelamin-A/C)
E33G (p.Glu33Gly) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Charcot-Marie-Tooth disease type 2; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E33G (p.Glu33Gly) variant details
- p.Glu33Gly
- rs267607614
- ClinGen CA018931
- ClinVar RCV000057495
- ClinVar RCV002513742
- Conflicting interpretations
- Charcot-Marie-Tooth disease type 2; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.91
- ESM-1b 0.00
- AlphaMissense 0.57
- CADD 32.00
- PolyPhen-2 0.40
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease type 2; not specified)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Population evidence available
- Structural context available
- Cited in: A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac… (PMID 14985400)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)