N47D (p.Asn47Asp) variant of FLG (Filaggrin)
N47D (p.Asn47Asp) in FLG (Filaggrin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes population frequency data.
N47D (p.Asn47Asp) variant details
- p.Asn47Asp
- ExAC rs758847783
- TOPMed rs758847783
- gnomAD rs758847783
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available