C342W (p.Cys342Trp) variant of FGFR2 (P21802)
C342W (p.Cys342Trp) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Common craniosynostosis syndromes; FGFR2-related craniosynostosis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C342W (p.Cys342Trp) variant details
- p.Cys342Trp
- rs121918496
- ClinGen CA280177
- ClinVar RCV000014195
- ClinVar RCV000535651
- Pathogenic
- Common craniosynostosis syndromes; FGFR2-related craniosynostosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (Common craniosynostosis syndromes; FGFR2-related craniosynostosi)
- 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)