C278W (p.Cys278Trp) variant of FGFR2 (P21802)
C278W (p.Cys278Trp) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FGFR2-related craniosynostosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
C278W (p.Cys278Trp) variant details
- p.Cys278Trp
- rs1554930790
- ClinGen CA378330887
- ClinVar RCV000655420
- Ensembl rs1554930790
- Pathogenic
- FGFR2-related craniosynostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (FGFR2-related craniosynostosis)
- EBI: Pathogenic (in CS)
- UniProt: Pathogenic (in CS)
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)