C201Y (p.Cys201Tyr) variant of GJB1 (Gap junction beta-1 protein)
C201Y (p.Cys201Tyr) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
C201Y (p.Cys201Tyr) variant details
- p.Cys201Tyr
- rs1602349730
- ClinGen CA413503269
- ClinVar RCV000789861
- ClinVar RCV001070375
- Likely pathogenic
- Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.95
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth Neuropathy X; not provided)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Population evidence available
- Structural context available
- Cited in: Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ… (PMID 12477701)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)