Y340H (p.Tyr340His) variant of FGFR2 (P21802)
Y340H (p.Tyr340His) 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; FGFR2-related craniosynostosis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
Y340H (p.Tyr340His) variant details
- p.Tyr340His
- rs121918489
- ClinGen CA280169
- ClinVar RCV000014175
- ClinVar RCV001214882
- Pathogenic/Likely pathogenic
- Common craniosynostosis syndromes; FGFR2-related craniosynostosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic/Likely pathogenic (Common craniosynostosis syndromes; FGFR2-related craniosynostosi)
- EBI: Pathogenic (in CS)
- UniProt: Pathogenic (in CS)
- 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: Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. (PMID 7987400)