Is CEBPA p.Ala71Val (c.212C>T) pathogenic?

CEBPA p.Ala71Val (c.212C>T) is classified Uncertain significance in CEBPA (ClinVar, Multiple submitters, 2 submitters; last evaluated 2026-05-26). AlphaMissense: likely pathogenic (0.7611); Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with CEBPA p.Ala71Val (c.212C>T)?

CEBPA p.Ala71Val (c.212C>T) is associated with Inborn genetic diseases, acute myeloid leukemia (ClinVar).

How common is CEBPA p.Ala71Val (c.212C>T) in the general population?

CEBPA p.Ala71Val (c.212C>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about CEBPA p.Ala71Val (c.212C>T)?

AlphaMissense predicts likely pathogenic (score 0.7611) — an in-silico prediction, not a clinical call.

CEBPA p.Ala71Val

c.212C>T · rs2145263731 · VCV2828028

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

AlphaMissense

likely pathogenic

0.7611 · ACMG-weighted

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,497,292)

Missense predictors

1/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.7611	likely pathogenic
REVEL	0.15	moderately benign-leaning
SaProt	LLR -8.33	tolerated
⇒ AlphaMissense calls this damaging; REVEL and SaProt do not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 11	GERP -1.2, phastCons 1
Regional constraint	o/e 0.93	unconstrained · MANE · 293 bp · p 0.38 · regional, not allelic
Overall
CADD	29.4	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,497,292). 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.Ala71Val
Coding: c.212C>T
MANE Select: NM_004364
dbSNP: rs2145263731
Type: single nucleotide variant
Location: chr19:33302203 (GRCh38)
Gene constraint: LOEUF 1.372 · pLI 0.26 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 63.67 · 2 PDB
Residue 71: an α-helix; the 'required for interaction with trib1' 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

Also linked: acute myeloid leukemia

Similar variants

CEBPA p.Ala71Ser Uncertain significance ★ ⚠ same residue
CEBPA p.Ala71Thr Uncertain significance ★ ⚠ same residue
CEBPA p.Ala71= Likely benign ★ same residue
CEBPA p.Glu59Ter Pathogenic ★★ same condition
CEBPA c.-1C>A Uncertain significance ★★ same condition
CEBPA c.-4C>G Uncertain significance ★★ same condition
CEBPA p.Ala113Ser 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-ala71val (accessed [today's date]).

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