P22S (p.Pro22Ser) variant of CEBPA (P49715)
P22S (p.Pro22Ser) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Acute myeloid leukemia; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P22S (p.Pro22Ser) variant details
- p.Pro22Ser
- rs770636941
- ClinGen CA9363719
- ClinVar RCV001055466
- ClinVar RCV004977943
- Conflicting interpretations
- Acute myeloid leukemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.06
- CADD 21.30
- PolyPhen-2 0.08
- SIFT 0.40
- ClinVar: Conflicting classifications of pathogenicity (Acute myeloid leukemia; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- 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)