A337P (p.Ala337Pro) variant of FGFR2 (P21802)
A337P (p.Ala337Pro) 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; not provided; Crouzon syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
A337P (p.Ala337Pro) variant details
- p.Ala337Pro
- rs387906676
- ClinGen CA280240
- ClinVar RCV000022732
- ClinVar RCV002513173
- Pathogenic/Likely pathogenic
- FGFR2-related craniosynostosis; not provided; Crouzon syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- AlphaMissense 1.00
- MetaLR 0.60
- MetaSVM 0.30
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.56
- ClinVar: Pathogenic/Likely pathogenic (FGFR2-related craniosynostosis; not provided; Crouzon syndrome)
- EBI: Pathogenic (in CS)
- UniProt: Pathogenic (in CS)
- Structural context available
- Cited in: Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with… (PMID 9677057)
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)