D43E (p.Asp43Glu) variant of GATA2 (P23769)
D43E (p.Asp43Glu) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Acute myeloid leukemia; Deafness-lymphedema-leukemia sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D43E (p.Asp43Glu) variant details
- p.Asp43Glu
- rs2107673546
- ClinGen CA354408761
- ClinVar RCV001364457
- ClinVar RCV005038136
- Uncertain significance
- Inborn genetic diseases; Acute myeloid leukemia; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.59
- CADD 19.20
- PolyPhen-2 0.22
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Acute myeloid leukemia; Deafness-lymphe)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)