W290G (p.Trp290Gly) variant of FGFR2 (P21802)
W290G (p.Trp290Gly) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FGFR2-related disorder; not provided; Crouzon syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
W290G (p.Trp290Gly) variant details
- p.Trp290Gly
- rs121918501
- ClinGen CA280187
- ClinVar RCV000014206
- ClinVar RCV004724741
- Pathogenic
- FGFR2-related disorder; not provided; Crouzon syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 0.74
- SIFT 0.00
- ClinVar: Pathogenic (FGFR2-related disorder; not provided; Crouzon syndrome)
- EBI: Pathogenic (in CS)
- UniProt: Pathogenic (in CS)
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. (PMID 8528214)
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)