G338E (p.Gly338Glu) variant of FGFR2 (P21802)
G338E (p.Gly338Glu) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of FGFR2-related craniosynostosis; Antley-Bixler syndrome without genital anomalies. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
G338E (p.Gly338Glu) variant details
- p.Gly338Glu
- rs1057519044
- ClinGen CA16043911
- ClinVar RCV000415513
- ClinVar RCV000762802
- Pathogenic/Likely pathogenic
- FGFR2-related craniosynostosis; Antley-Bixler syndrome without genital anomalies
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- AlphaMissense 0.88
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic/Likely pathogenic (FGFR2-related craniosynostosis; Antley-Bixler syndrome without g)
- EBI: Pathogenic (in CS)
- UniProt: Pathogenic (in CS)
- Structural context available
- Cited in: Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2… (PMID 8946174)
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)