S252W (p.Ser252Trp) variant of FGFR2 (P21802)
S252W (p.Ser252Trp) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FGFR2-related disorder; Crouzon syndrome; Antley-Bixler syndrome without genital. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S252W (p.Ser252Trp) variant details
- p.Ser252Trp
- rs79184941
- ClinGen CA122985
- NCI-TCGA Cosmic COSV6063
- cosmic curated COSV60638
- Pathogenic
- FGFR2-related disorder; Crouzon syndrome; Antley-Bixler syndrome without genital
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- AlphaMissense 0.99
- MetaLR 0.76
- MetaSVM 0.63
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic (FGFR2-related disorder; Crouzon syndrome; Antley-Bixler syndrome)
- EBI: Pathogenic (in APRS and PS)
- UniProt: Pathogenic (in APRS and PS)
- Population evidence available
- Structural context available
- Cited in: Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. (PMID 11390973)
- Cited in: Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with… (PMID 11781872)