S21R (p.Ser21Arg) variant of CEBPA (P49715)
S21R (p.Ser21Arg) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S21R (p.Ser21Arg) variant details
- p.Ser21Arg
- rs867113214
- ClinGen CA16616044
- ClinVar RCV000458764
- ClinVar RCV002255394
- Conflicting interpretations
- Acute myeloid leukemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.16
- MetaLR 0.05
- MetaSVM -1.00
- CADD 15.80
- PolyPhen-2 0.28
- SIFT 0.35
- ClinVar: Conflicting classifications of pathogenicity (Acute myeloid leukemia; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)