E44D (p.Glu44Asp) variant of GATA2 (P23769)
E44D (p.Glu44Asp) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
E44D (p.Glu44Asp) variant details
- p.Glu44Asp
- rs2068708917
- Ensembl rs2068708917
- ClinGen CA354408739
- ClinVar RCV001983541
- Uncertain significance
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- AlphaMissense 0.31
- MetaLR 0.88
- MetaSVM 0.67
- PolyPhen-2 0.02
- SIFT 0.37
- EVE 0.10
- ClinVar: Uncertain significance (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available