I288N (p.Ile288Asn) variant of FGFR2 (P21802)
I288N (p.Ile288Asn) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; FGFR2-related craniosynostosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
I288N (p.Ile288Asn) variant details
- p.Ile288Asn
- rs1850289942
- ClinGen CA378330706
- ClinVar RCV001049467
- ClinVar RCV006279320
- Pathogenic/Likely pathogenic
- not provided; FGFR2-related craniosynostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.52
- ClinVar: Pathogenic/Likely pathogenic (not provided; FGFR2-related craniosynostosis)
- EBI: Pathogenic (in CS)
- UniProt: Pathogenic (in CS)
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)