D46E (p.Asp46Glu) variant of GATA2 (P23769)
D46E (p.Asp46Glu) in GATA2 (P23769) 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 structural context.
D46E (p.Asp46Glu) variant details
- p.Asp46Glu
- cosmic curated COSV62002
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available