G84D (p.Gly84Asp) variant of TGM1 (P22735)
G84D (p.Gly84Asp) in TGM1 (P22735) 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 structural context.
G84D (p.Gly84Asp) variant details
- p.Gly84Asp
- ExAC rs748234923
- TOPMed rs748234923
- gnomAD rs748234923
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available