E2Q (p.Glu2Gln) variant of GATA2 (P23769)
E2Q (p.Glu2Gln) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- rs2107673807
- ClinGen CA354409364
- ClinVar RCV001940043
- Ensembl rs2107673807
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- AlphaMissense 0.50
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.36
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available