E565K (p.Glu565Lys) variant of FGFR2 (P21802)
E565K (p.Glu565Lys) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of FGFR2-related craniosynostosis. The record also includes published literature and structural context.
E565K (p.Glu565Lys) variant details
- p.Glu565Lys
- rs2133944245
- ClinGen CA378320644
- cosmic curated COSV60639
- ClinVar RCV003754060
- Likely pathogenic
- FGFR2-related craniosynostosis
- Missense
- ClinVar: Likely pathogenic (FGFR2-related craniosynostosis)
- EBI: Likely pathogenic (in PS)
- UniProt: Likely pathogenic (in PS)
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)