Y98C (p.Tyr98Cys) variant of GJA1 (Gap junction alpha-1 protein)
Y98C (p.Tyr98Cys) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of GJA1-related disorder. The record also includes variant effect predictions, published literature, and structural context.
Y98C (p.Tyr98Cys) variant details
- p.Tyr98Cys
- UniProt VAR 015757
- Likely pathogenic
- GJA1-related disorder
- Missense
- MetaLR 0.98
- MetaSVM 1.07
- SIFT 0.04
- ClinVar: Likely pathogenic (GJA1-related disorder)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available
- Cited in: Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. (PMID 12457340)
- Cited in: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital… (PMID 16816024)