E33Q (p.Glu33Gln) variant of LMNA (Prelamin-A/C)
E33Q (p.Glu33Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes published literature and structural context.
E33Q (p.Glu33Gln) variant details
- p.Glu33Gln
- rs2527830747
- ClinGen CA342807465
- ClinVar RCV002926889
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- ESM-1b 0.00
- AlphaMissense 0.31
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance (in EDMD2)
- UniProt: Uncertain significance (in EDMD2)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)