Is CEBPA p.Ala271= (c.813G>A) pathogenic?

CEBPA p.Ala271= (c.813G>A) is classified Likely benign in CEBPA (ClinVar, Single submitter, 1 submitter; last evaluated 2025-02-02). Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with CEBPA p.Ala271= (c.813G>A)?

CEBPA p.Ala271= (c.813G>A) is associated with Inborn genetic diseases (ClinVar).

How common is CEBPA p.Ala271= (c.813G>A) in the general population?

CEBPA p.Ala271= (c.813G>A) is absent from gnomAD v4.1 (gnomAD).

CEBPA p.Ala271=

c.813G>A · VCV3831199

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Inborn genetic diseases

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 -2.2	GERP -3.3
Overall
CADD	10.76	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: CEBPA
Protein: p.Ala271=
Coding: c.813G>A
MANE Select: NM_004364
Type: single nucleotide variant
Location: chr19:33301602 (GRCh38)
Gene constraint: LOEUF 1.372 · pLI 0.26 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 63.67 · 2 PDB
Residue 271: the 'interaction with foxo1' region; the 'disordered' region

Full CEBPA gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CEBPA p.Ala271Gly Uncertain significance ★★ ⚠ same residue
CEBPA p.Ala271Pro Benign ★★ same residue
CEBPA p.Ala271Ser Uncertain significance ★★ ⚠ same residue
CEBPA p.Ala271Thr Uncertain significance ★ ⚠ same residue
CEBPA p.Ala271Val Uncertain significance ★ ⚠ same residue
CEBPA c.-1C>A Uncertain significance ★★ same condition
CEBPA c.-4C>G Uncertain significance ★★ same condition
CEBPA p.Ala118Thr 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-ala271 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown