Q289P (p.Gln289Pro) variant of FGFR2 (P21802)
Q289P (p.Gln289Pro) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FGFR2-related disorder; FGFR2-related craniosynostosis; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Q289P (p.Gln289Pro) variant details
- p.Gln289Pro
- rs121918497
- ClinGen CA280178
- ClinVar RCV000014196
- ClinVar RCV000014197
- Pathogenic
- FGFR2-related disorder; FGFR2-related craniosynostosis; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.78
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (FGFR2-related disorder; FGFR2-related craniosynostosis; Inborn g)
- EBI: Pathogenic (in CS and JWS)
- UniProt: Pathogenic (in CS and JWS)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). (PMID 11173845)
- Cited in: Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients. (PMID 11380921)