CEBPA p.Ala203Phe
c.607_608delinsTT · rs2513330055 · VCV2997484
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
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 · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 0.042, phastCons 1 |
| Regional constraint | o/e 1.14 | unconstrained · MANE · 260 bp · p 0.13 · regional, not allelic |
| Region caveats | ||
| Repeat context | tandem | G-rich low complexity, simple repeat · ambiguous alignment · confidence, not pathogenicity |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- CEBPA
- Protein
- p.Ala203Phe
- Coding
- c.607_608delinsTT
- MANE Select
- NM_004364
- dbSNP
- rs2513330055
- Type
- Indel
- Location
- chr19:33301807 (GRCh38)
- Gene constraint
- LOEUF 1.372 · pLI 0.26 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 63.67 · 2 PDB
- Residue 203
- the 'required to induce adipocyte differentiation' region
Similar variants
- CEBPA p.Ala203= Likely benign ★★ same residue
- CEBPA p.Ala199Leu Uncertain significance ★★ same condition
- CEBPA p.Ala265Met Uncertain significance ★★ same condition
- CEBPA p.Ala93Lys Uncertain significance ★★ same condition
- CEBPA p.Asp322Ile Uncertain significance ★★ same condition
- CEBPA p.Cys56_Glu57delinsTrpLys Uncertain significance ★★ same condition
- CEBPA p.Gly151_Arg156delinsAsp Uncertain significance ★★ same condition
- CEBPA p.Pro187_Ser190delinsSerHisPro 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-ala203phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown