S17R (p.Ser17Arg) variant of CEBPA (P49715)
S17R (p.Ser17Arg) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S17R (p.Ser17Arg) variant details
- p.Ser17Arg
- rs1245499278
- ClinGen CA405275780
- ClinVar RCV000528397
- ClinVar RCV005801819
- Conflicting interpretations
- Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.11
- MetaLR 0.09
- MetaSVM -0.96
- CADD 25.30
- PolyPhen-2 0.55
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Acute myeloid leukemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.6e-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)