Q43H (p.Gln43His) variant of FGFR2 (P21802)
Q43H (p.Gln43His) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of FGFR2-related craniosynostosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q43H (p.Gln43His) variant details
- p.Gln43His
- ExAC rs771790476
- TOPMed rs771790476
- gnomAD rs771790476
- Uncertain significance
- FGFR2-related craniosynostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.13
- CADD 26.50
- PolyPhen-2 0.80
- SIFT 0.02
- ClinVar: Uncertain significance (FGFR2-related craniosynostosis)
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available