R450G (p.Arg450Gly) variant of FGFR2 (P21802)
R450G (p.Arg450Gly) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; FGFR2-related craniosynostosis. The record also includes structural context.
R450G (p.Arg450Gly) variant details
- p.Arg450Gly
- 1000Genomes rs536181987
- ExAC rs536181987
- TOPMed rs536181987
- gnomAD rs536181987
- Pathogenic/Likely pathogenic
- not provided; FGFR2-related craniosynostosis
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; FGFR2-related craniosynostosis)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available