A61V (p.Ala61Val) variant of GATA2 (P23769)
A61V (p.Ala61Val) 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; Monocytopenia with susceptibility to infections; Myelod. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A61V (p.Ala61Val) variant details
- p.Ala61Val
- rs375349195
- ClinGen CA2600089
- ClinVar RCV000234722
- ClinVar RCV000765713
- Uncertain significance
- Inborn genetic diseases; Monocytopenia with susceptibility to infections; Myelod
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.53
- CADD 23.40
- PolyPhen-2 0.21
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases; Monocytopenia with susceptibility to in)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-05)
- 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)