S239C (p.Ser239Cys) variant of FGFR2 (P21802)
S239C (p.Ser239Cys) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FGFR2-related craniosynostosis; Inborn genetic diseases; not provided. The record also includes structural context.
S239C (p.Ser239Cys) variant details
- p.Ser239Cys
- ExAC rs780846065
- gnomAD rs780846065
- Pathogenic
- FGFR2-related craniosynostosis; Inborn genetic diseases; not provided
- Missense
- ClinVar: Pathogenic (FGFR2-related craniosynostosis; Inborn genetic diseases; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available