C457Y (p.Cys457Tyr) variant of ITGB4 (Integrin beta-4)
C457Y (p.Cys457Tyr) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Junctional epidermolysis bullosa with pyloric atresia. The record also includes published literature and structural context.
C457Y (p.Cys457Tyr) variant details
- p.Cys457Tyr
- rs2060870463
- ClinGen CA401047897
- ClinVar RCV001352876
- Ensembl rs2060870463
- Pathogenic
- Junctional epidermolysis bullosa with pyloric atresia
- Missense
- ClinVar: Pathogenic (Junctional epidermolysis bullosa with pyloric atresia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Epidermolysis Bullosa with Pyloric Atresia. (PMID 20301336)