E33D (p.Glu33Asp) variant of LMNA (Prelamin-A/C)
E33D (p.Glu33Asp) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E33D (p.Glu33Asp) variant details
- p.Glu33Asp
- rs57966821
- ClinGen CA018946
- ClinVar RCV000057497
- Ensembl rs57966821
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.57
- ESM-1b 0.52
- AlphaMissense 0.41
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Charcot-Marie-Tooth disease type 2)
- EBI: Pathogenic (found in a patient with autosomal dominant Charcot-Marie-Tooth d)
- UniProt: Pathogenic (found in a patient with autosomal dominant Charcot-Marie-Tooth d)
- 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)