Q43K (p.Gln43Lys) variant of FGFR2 (P21802)
Q43K (p.Gln43Lys) 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 0.43 / 1. The record also includes population frequency data and structural context.
Q43K (p.Gln43Lys) variant details
- p.Gln43Lys
- ExAC rs777638930
- TOPMed rs777638930
- gnomAD rs777638930
- Uncertain significance
- FGFR2-related craniosynostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.19
- CADD 24.20
- PolyPhen-2 0.22
- SIFT 0.19
- ClinVar: Uncertain significance (FGFR2-related craniosynostosis)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available