P39A (p.Pro39Ala) variant of CEBPA (P49715)
P39A (p.Pro39Ala) 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; not provided; Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P39A (p.Pro39Ala) variant details
- p.Pro39Ala
- rs1967199149
- ClinGen CA405275645
- ClinVar RCV001038661
- ClinVar RCV005232071
- Conflicting interpretations
- Inborn genetic diseases; not provided; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.03
- AlphaMissense 0.90
- MetaLR 0.23
- MetaSVM -0.70
- CADD 13.20
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Acute myeloid leukemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 6.8e-06)
- 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)