W44L (p.Trp44Leu) variant of GJB1 (Gap junction beta-1 protein)
W44L (p.Trp44Leu) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease. The record also includes published literature and structural context.
W44L (p.Trp44Leu) variant details
- p.Trp44Leu
- rs1555937063
- ClinGen CA413501047
- ClinVar RCV000789179
- Ensembl rs1555937063
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Connexin32 and X-linked Charcot-Marie-Tooth disease. (PMID 9361298)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)