Y281C (p.Tyr281Cys) variant of FGFR2 (P21802)
Y281C (p.Tyr281Cys) 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; Crouzon syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
Y281C (p.Tyr281Cys) variant details
- p.Tyr281Cys
- rs1057519038
- ClinGen CA16043917
- ClinVar RCV000415488
- ClinVar RCV001547058
- Likely pathogenic
- FGFR2-related craniosynostosis; Crouzon syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Likely pathogenic (FGFR2-related craniosynostosis; Crouzon syndrome; not provided)
- EBI: Pathogenic (in CS)
- UniProt: Pathogenic (in CS)
- Structural context available
- Cited in: Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients. (PMID 11380921)
- Cited in: Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with… (PMID 11781872)