Y340C (p.Tyr340Cys) variant of FGFR2 (P21802)
Y340C (p.Tyr340Cys) 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 0.87 / 1. The record also includes published literature and structural context.
Y340C (p.Tyr340Cys) variant details
- p.Tyr340Cys
- rs1554928884
- ClinGen CA378328024
- ClinVar RCV000523700
- ClinVar RCV001232531
- Pathogenic
- FGFR2-related craniosynostosis; not provided; Pfeiffer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- AlphaMissense 0.62
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (FGFR2-related craniosynostosis; not provided; Pfeiffer syndrome)
- EBI: Pathogenic (in PS)
- UniProt: Pathogenic (in PS)
- Structural context available
- Cited in: Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. (PMID 10394936)
- Cited in: Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with… (PMID 11781872)