A40V (p.Ala40Val) variant of CEBPA (P49715)
A40V (p.Ala40Val) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- rs1967198676
- ClinGen CA405275636
- ClinVar RCV001304328
- ClinVar RCV005802112
- Uncertain significance
- Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.06
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases; Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-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)