S267P (p.Ser267Pro) variant of FGFR2 (P21802)
S267P (p.Ser267Pro) 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; Pfeiffer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
S267P (p.Ser267Pro) variant details
- p.Ser267Pro
- rs121918505
- ClinGen CA210548
- cosmic curated COSV60648
- ClinVar RCV000014213
- Pathogenic
- FGFR2-related craniosynostosis; not provided; Pfeiffer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- AlphaMissense 0.97
- MetaLR 0.89
- MetaSVM 1.08
- PolyPhen-2 0.87
- SIFT 0.00
- EVE 0.21
- ClinVar: Pathogenic (FGFR2-related craniosynostosis; not provided; Pfeiffer syndrome)
- EBI: Pathogenic (in CS)
- UniProt: Pathogenic (in CS)
- Structural context available
- Cited in: Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. (PMID 10394936)
- Cited in: Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human… (PMID 11325814)