W290R (p.Trp290Arg) variant of FGFR2 (P21802)
W290R (p.Trp290Arg) 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; not provided; Crouzon syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
W290R (p.Trp290Arg) variant details
- p.Trp290Arg
- rs121918501
- ClinGen CA280185
- cosmic curated COSV60645
- ClinVar RCV000014205
- Pathogenic
- FGFR2-related craniosynostosis; not provided; Crouzon syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.97
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (FGFR2-related craniosynostosis)
- EBI: Pathogenic (in CS)
- UniProt: Pathogenic (in CS)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. (PMID 7655462)
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)