K292E (p.Lys292Glu) variant of FGFR2 (P21802)
K292E (p.Lys292Glu) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of FGFR2-related craniosynostosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
K292E (p.Lys292Glu) variant details
- p.Lys292Glu
- rs121918500
- ClinGen CA280183
- ClinVar RCV000014204
- ClinVar RCV002513037
- Likely pathogenic
- FGFR2-related craniosynostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 0.88
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (FGFR2-related craniosynostosis)
- EBI: Pathogenic (in CS)
- UniProt: Pathogenic (in CS)
- Structural context available
- Cited in: A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. (PMID 9152842)
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)