A391E (p.Ala391Glu) variant of FGFR3 (P22607)
A391E (p.Ala391Glu) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FGFR3-related disorder; Common craniosynostosis syndromes; Inborn genetic diseas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
A391E (p.Ala391Glu) variant details
- p.Ala391Glu
- rs28931615
- ClinGen CA249860
- cosmic curated COSV53391
- ClinVar RCV000017726
- Pathogenic
- FGFR3-related disorder; Common craniosynostosis syndromes; Inborn genetic diseas
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.06
- MetaLR 0.16
- MetaSVM -0.87
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.08
- ClinVar: Pathogenic (FGFR3-related disorder; Common craniosynostosis syndromes; Inbor)
- EBI: Pathogenic (in CAN)
- UniProt: Pathogenic (in CAN)
- Structural context available
- Cited in: Crouzon with acanthosis nigricans. Further delineation of the syndrome. (PMID 17935505)
- Cited in: Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. (PMID 7493034)