S354C (p.Ser354Cys) variant of FGFR2 (P21802)
S354C (p.Ser354Cys) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FGFR2-related craniosynostosis; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
S354C (p.Ser354Cys) variant details
- p.Ser354Cys
- rs121918490
- ClinGen CA280170
- ClinVar RCV000014176
- ClinVar RCV000623131
- Pathogenic
- FGFR2-related craniosynostosis; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- AlphaMissense 0.94
- MetaLR 0.53
- MetaSVM 0.05
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.40
- ClinVar: Pathogenic (FGFR2-related craniosynostosis; Inborn genetic diseases; not pro)
- EBI: Pathogenic (in CS)
- UniProt: Pathogenic (in CS)
- Structural context available
- Cited in: Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). (PMID 11173845)
- Cited in: Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with… (PMID 11781872)