V181E (p.Val181Glu) variant of GJB1 (Gap junction beta-1 protein)
V181E (p.Val181Glu) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Charcot-Marie-Tooth Neuropathy X; not provided. The record also includes published literature and structural context.
V181E (p.Val181Glu) variant details
- p.Val181Glu
- rs876661252
- ClinGen CA10577659
- ClinVar RCV000214039
- ClinVar RCV000654849
- Likely pathogenic
- Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth Neuropathy X; not provided)
- EBI: Likely pathogenic (in CMTX1)
- UniProt: Likely pathogenic (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)