Q46H (p.Gln46His) variant of FGFR2 (P21802)
Q46H (p.Gln46His) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q46H (p.Gln46His) variant details
- p.Gln46His
- rs748117555
- ExAC rs748117555
- TOPMed rs748117555
- gnomAD rs748117555
- Conflicting interpretations
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.12
- CADD 23.10
- PolyPhen-2 0.80
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Antley-Bixler syndrome without genital anomalies or disordered s)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)
- Cited in: Apert Syndrome. (PMID 31145570)