C278F (p.Cys278Phe) variant of FGFR2 (P21802)
C278F (p.Cys278Phe) 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; Common craniosynostosis syndromes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
C278F (p.Cys278Phe) variant details
- p.Cys278Phe
- rs1057519037
- ClinGen CA658655488
- ClinVar RCV000701381
- ClinVar RCV006273020
- Pathogenic
- FGFR2-related craniosynostosis; Common craniosynostosis syndromes
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.98
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (FGFR2-related craniosynostosis; Common craniosynostosis syndrome)
- EBI: Pathogenic (in CS, JWS and PS)
- UniProt: Pathogenic (in CS, JWS and PS)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). (PMID 11173845)
- Cited in: Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with… (PMID 11781872)