P26R (p.Pro26Arg) variant of CEBPA (P49715)
P26R (p.Pro26Arg) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P26R (p.Pro26Arg) variant details
- p.Pro26Arg
- rs1216903258
- ClinGen CA405275724
- ClinVar RCV002649645
- ClinVar RCV005535374
- Conflicting interpretations
- Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.16
- MetaLR 0.10
- MetaSVM -1.01
- CADD 24.00
- PolyPhen-2 0.45
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Acute myeloid leukemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 8.4e-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)