F276V (p.Phe276Val) variant of FGFR2 (P21802)
F276V (p.Phe276Val) 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 0.88 / 1. The record also includes published literature and structural context.
F276V (p.Phe276Val) variant details
- p.Phe276Val
- rs1057519036
- ClinGen CA16043919
- ClinVar RCV000415486
- ClinVar RCV000655413
- Pathogenic
- FGFR2-related craniosynostosis; not provided; Crouzon syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic (FGFR2-related craniosynostosis; not provided; Crouzon syndrome)
- EBI: Pathogenic (in CS)
- UniProt: Pathogenic (in CS)
- Structural context available
- Cited in: Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). (PMID 11173845)
- Cited in: Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with… (PMID 11781872)