C342Y (p.Cys342Tyr) variant of FGFR2 (P21802)
C342Y (p.Cys342Tyr) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Common craniosynostosis syndromes; Crouzon syndrome; Antley-Bixler syndrome with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
C342Y (p.Cys342Tyr) variant details
- p.Cys342Tyr
- rs121918487
- ClinGen CA280168
- ClinVar RCV000014173
- ClinVar RCV000014174
- Pathogenic/Likely pathogenic
- Common craniosynostosis syndromes; Crouzon syndrome; Antley-Bixler syndrome with
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (Common craniosynostosis syndromes; Crouzon syndrome; Antley-Bixl)
- EBI: Pathogenic (in CS and PS)
- UniProt: Pathogenic (in CS and PS)
- Structural context available
- Cited in: Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). (PMID 11173845)
- Cited in: Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients. (PMID 11380921)