CEBPA p.Pro228=
c.684G>A · rs1199384366 · VCV456699
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 9.95e-05%)
Conditions
1
acute myeloid leukemia
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.85 | GERP -2.1, phastCons 0.98 |
| Overall | ||
| CADD | 11.21 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
9.95e-05%
Overall
9.95e-05%
1/1,004,602 alleles · very rare
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CEBPA
- Protein
- p.Pro228=
- Coding
- c.684G>A
- MANE Select
- NM_004364
- dbSNP
- rs1199384366
- Type
- single nucleotide variant
- Location
- chr19:33301731 (GRCh38)
- Gene constraint
- LOEUF 1.372 · pLI 0.26 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 63.67 · 2 PDB
- Residue 228
- the 'disordered' region
Similar variants
- CEBPA p.Glu59Ter Pathogenic ★★ same condition
- CEBPA p.Ala113Ser Uncertain significance ★★ ⚠ same condition
- CEBPA p.Ala118Thr Uncertain significance ★★ ⚠ same condition
- CEBPA p.Ala118Val Uncertain significance ★★ ⚠ same condition
- CEBPA p.Ala124Val Uncertain significance ★★ ⚠ same condition
- CEBPA p.Ala154Val Uncertain significance ★★ ⚠ same condition
- CEBPA p.Ala176Val Uncertain significance ★★ ⚠ same condition
- CEBPA p.Ala199Thr Uncertain significance ★★ ⚠ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cebpa-p-pro228 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown