D53E (p.Asp53Glu) variant of GATA2 (P23769)
D53E (p.Asp53Glu) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe. The record also includes structural context.
D53E (p.Asp53Glu) variant details
- p.Asp53Glu
- rs1444196791
- ClinGen CA354408565
- ClinVar RCV003800941
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available