C342F (p.Cys342Phe) variant of FGFR2 (P21802)
C342F (p.Cys342Phe) 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; not provided; Jackson-Weiss syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
C342F (p.Cys342Phe) variant details
- p.Cys342Phe
- rs121918487
- ClinGen CA16043909
- ClinVar RCV000415490
- ClinVar RCV000815502
- Pathogenic
- FGFR2-related craniosynostosis; not provided; Jackson-Weiss syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (FGFR2-related craniosynostosis; not provided; Jackson-Weiss synd)
- 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: FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes… (PMID 8644708)