Y328C (p.Tyr328Cys) variant of FGFR2 (P21802)
Y328C (p.Tyr328Cys) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of FGFR2-related craniosynostosis; not provided; Crouzon syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
Y328C (p.Tyr328Cys) variant details
- p.Tyr328Cys
- rs121918493
- ClinGen CA280172
- ClinVar RCV000014189
- ClinVar RCV000798719
- Pathogenic/Likely pathogenic
- FGFR2-related craniosynostosis; not provided; Crouzon syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.31
- MetaLR 0.42
- MetaSVM -0.25
- PolyPhen-2 0.92
- SIFT 0.03
- EVE 0.28
- ClinVar: Pathogenic/Likely pathogenic (FGFR2-related craniosynostosis; not provided; Crouzon syndrome)
- EBI: Pathogenic (in CS)
- UniProt: Pathogenic (in CS)
- Structural context available
- Cited in: Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. (PMID 7874170)
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)