S372C (p.Ser372Cys) variant of FGFR2 (P21802)
S372C (p.Ser372Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
S372C (p.Ser372Cys) variant details
- p.Ser372Cys
- rs121913477
- ClinGen CA256747
- cosmic curated COSV60655
- ClinVar RCV000014200
- Pathogenic
- FGFR2-related craniosynostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- AlphaMissense 0.46
- MetaLR 0.61
- MetaSVM 0.49
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.24
- ClinVar: Pathogenic (FGFR2-related craniosynostosis)
- EBI: Pathogenic (in BSTVS)
- UniProt: Pathogenic (in BSTVS)
- Structural context available
- Cited in: Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation. (PMID 18247426)
- Cited in: Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. (PMID 8696350)