V78I (p.Val78Ile) variant of FLG (Filaggrin)
V78I (p.Val78Ile) in FLG (Filaggrin) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The record also includes population frequency data.
V78I (p.Val78Ile) variant details
- p.Val78Ile
- ExAC rs753608358
- TOPMed rs753608358
- gnomAD rs753608358
- Likely benign
- Inborn genetic diseases
- Missense
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Population evidence available