D23Y (p.Asp23Tyr) variant of GATA2 (P23769)
D23Y (p.Asp23Tyr) 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 0.79 / 1. The record also includes structural context.
D23Y (p.Asp23Tyr) variant details
- p.Asp23Tyr
- rs760183425
- ClinGen CA354409070
- ClinVar RCV001231837
- ExAC rs760183425
- Uncertain significance
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- AlphaMissense 0.56
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.19
- ClinVar: Uncertain significance (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available