Y105C (p.Tyr105Cys) variant of FGFR2 (P21802)
Y105C (p.Tyr105Cys) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; FGFR2-related craniosynostosis; Crouzon syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Y105C (p.Tyr105Cys) variant details
- p.Tyr105Cys
- rs1434545235
- ClinGen CA378324800
- ClinVar RCV000522502
- ClinVar RCV000531359
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; FGFR2-related craniosynostosis; Crouzon syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.98
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; FGFR2-related craniosynostosis; Crouzon)
- EBI: Pathogenic (in CS)
- UniProt: Pathogenic (in CS)
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- 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: Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2… (PMID 8946174)