P5L (p.Pro5Leu) variant of GATA2 (P23769)
P5L (p.Pro5Leu) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy. The record also includes structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- rs2472935326
- ClinGen CA2580068701
- ClinVar RCV003046832
- Uncertain significance
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- ClinVar: Uncertain significance (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available