G338R (p.Gly338Arg) variant of FGFR2 (P21802)
G338R (p.Gly338Arg) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Crouzon syndrome; Common craniosynostosis syndromes; FGFR2-related craniosynosto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G338R (p.Gly338Arg) variant details
- p.Gly338Arg
- rs1057519043
- ClinGen CA16043912
- ClinVar RCV000415494
- ClinVar RCV001381651
- Pathogenic
- Crouzon syndrome; Common craniosynostosis syndromes; FGFR2-related craniosynosto
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (FGFR2-related craniosynostosis)
- EBI: Pathogenic (in CS)
- UniProt: Pathogenic (in CS)
- Structural context available
- Cited in: Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with… (PMID 11781872)
- Cited in: Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. (PMID 7581378)