C278L (p.Cys278Leu) variant of FGFR2 (P21802)
C278L (p.Cys278Leu) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pfeiffer syndrome. The record also includes published literature and structural context.
C278L (p.Cys278Leu) variant details
- p.Cys278Leu
- rs1057519037
- ClinGen CA16043918
- ClinVar RCV000415475
- Likely pathogenic
- Pfeiffer syndrome
- Missense
- ClinVar: Likely pathogenic (Pfeiffer syndrome)
- EBI: Likely pathogenic (in CS)
- UniProt: Likely pathogenic (in CS)
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)