A109P (p.Ala109Pro) variant of FGFR2 (P21802)
A109P (p.Ala109Pro) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of FGFR2-related craniosynostosis; not provided; Crouzon syndrome. The record also includes structural context.
A109P (p.Ala109Pro) variant details
- p.Ala109Pro
- Ensembl rs2135112450
- Pathogenic/Likely pathogenic
- FGFR2-related craniosynostosis; not provided; Crouzon syndrome
- Missense
- ClinVar: Pathogenic/Likely pathogenic (FGFR2-related craniosynostosis; not provided; Crouzon syndrome)
- UniProt: Likely pathogenic
- Structural context available