Q20R (p.Gln20Arg) variant of CEBPA (P49715)
Q20R (p.Gln20Arg) in CEBPA (P49715) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Q20R (p.Gln20Arg) variant details
- p.Gln20Arg
- rs1329725504
- ClinGen CA405275762
- ClinVar RCV001885683
- ClinVar RCV004980844
- Uncertain significance
- Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -1.10
- CADD 23.00
- PolyPhen-2 0.10
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.1e-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)