CEBPE p.Ala101=
c.303G>C · rs149752323 · VCV2091001
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
specific granule deficiency
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 -8.7 | GERP -4.2 |
| Overall | ||
| CADD | 0.245 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CEBPE
- Protein
- p.Ala101=
- Coding
- c.303G>C
- MANE Select
- NM_001805
- dbSNP
- rs149752323
- Type
- single nucleotide variant
- Location
- chr14:23118789 (GRCh38)
- Gene constraint
- LOEUF 0.848 · pLI 0.05 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 64.89 · 1 PDB
Disease context
specific granule deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Recurrent infections due to specific granule deficiency (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy, Neonatal
Similar variants
- CEBPE p.Ala101Val Uncertain significance ★★ ⚠ same residue
- CEBPE p.Arg24Ter Pathogenic/Likely pathogenic ★★ same condition
- CEBPE p.Ala119Val Uncertain significance ★★ ⚠ same condition
- CEBPE p.Ala171Asp Uncertain significance ★★ ⚠ same condition
- CEBPE p.Ala44Thr Uncertain significance ★★ ⚠ same condition
- CEBPE p.Arg125Gln Uncertain significance ★★ ⚠ same condition
- CEBPE p.Arg135Gln Uncertain significance ★★ ⚠ same condition
- CEBPE p.Arg167Cys 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/cebpe-p-ala101 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown