N62K (p.Asn62Lys) variant of GATA2 (P23769)
N62K (p.Asn62Lys) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GATA2-related disorder; Inborn genetic diseases; Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
N62K (p.Asn62Lys) variant details
- p.Asn62Lys
- rs751200779
- ClinGen CA2600087
- ClinVar RCV001049661
- ClinVar RCV003328647
- Uncertain significance
- GATA2-related disorder; Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.60
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Uncertain significance (GATA2-related disorder; Inborn genetic diseases; Acute myeloid l)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 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)