Q115R (p.Gln115Arg) variant of FLG (Filaggrin)
Q115R (p.Gln115Arg) in FLG (Filaggrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes population frequency data.
Q115R (p.Gln115Arg) variant details
- p.Gln115Arg
- ESP rs370754859
- TOPMed rs370754859
- gnomAD rs370754859
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available