Y375C (p.Tyr375Cys) variant of FGFR2 (P21802)
Y375C (p.Tyr375Cys) 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; Bent bone dysplasia syndrome 1; Neoplasm of stom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
Y375C (p.Tyr375Cys) variant details
- p.Tyr375Cys
- rs121913478
- ClinGen CA122987
- cosmic curated COSV60640
- ClinVar RCV000014198
- Pathogenic/Likely pathogenic
- FGFR2-related craniosynostosis; Bent bone dysplasia syndrome 1; Neoplasm of stom
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- AlphaMissense 0.16
- MetaLR 0.60
- MetaSVM 0.06
- PolyPhen-2 0.19
- SIFT 0.02
- EVE 0.23
- ClinVar: Pathogenic/Likely pathogenic (FGFR2-related craniosynostosis; Bent bone dysplasia syndrome 1;)
- EBI: Pathogenic (in PS and BSTVS)
- UniProt: Pathogenic (in PS and BSTVS)
- 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: Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome. (PMID 12000365)