S163W (p.Ser163Trp) variant of FOXA2 (Hepatocyte nuclear factor 3-beta)
S163W (p.Ser163Trp) in FOXA2 (Hepatocyte nuclear factor 3-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital syndromic hypopituitarism.
S163W (p.Ser163Trp) variant details
- p.Ser163Trp
- rs2514813303
- ClinGen CA408502392
- ClinVar RCV003228600
- Likely pathogenic
- Congenital syndromic hypopituitarism
- Missense
- ClinVar: Likely pathogenic (Congenital syndromic hypopituitarism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic