E565A (p.Glu565Ala) variant of FGFR2 (P21802)
E565A (p.Glu565Ala) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of FGFR2-related craniosynostosis; not provided; Pfeiffer syndrome. The record also includes published literature and structural context.
E565A (p.Glu565Ala) variant details
- p.Glu565Ala
- rs121918506
- ClinGen CA280192
- cosmic curated COSV10590
- ClinVar RCV000014219
- Pathogenic/Likely pathogenic
- FGFR2-related craniosynostosis; not provided; Pfeiffer syndrome
- Missense
- ClinVar: Pathogenic/Likely pathogenic (FGFR2-related craniosynostosis; not provided; Pfeiffer syndrome)
- EBI: Pathogenic (in PS)
- UniProt: Pathogenic (in PS)
- Structural context available
- Cited in: Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome. (PMID 15523615)
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)