Is CEBPG p.Lys77Arg (c.230A>G) pathogenic?

CEBPG p.Lys77Arg (c.230A>G) is classified Uncertain significance in CEBPG (ClinVar, Single submitter, 1 submitter; last evaluated 2024-05-24). AlphaMissense: likely benign (0.1171); Very rare (popmax 0.00288%, nfe).

How common is CEBPG p.Lys77Arg (c.230A>G) in the general population?

CEBPG p.Lys77Arg (c.230A>G) is very rare (popmax 0.00288%, nfe) (gnomAD).

What do computational predictors say about CEBPG p.Lys77Arg (c.230A>G)?

AlphaMissense predicts likely benign (score 0.1171) — an in-silico prediction, not a clinical call.

CEBPG p.Lys77Arg

c.230A>G · VCV3265697

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.1171 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.00288%, nfe)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.1171	likely benign
REVEL	0.138	moderately benign-leaning
SaProt	LLR -6.22	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
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 0.86	unconstrained · MANE · 449 bp · p 0.054 · regional, not allelic
Overall
CADD	23.7	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

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

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00288% European (non-Finnish) · 34/1,180,054 alleles

Filtering AF 0.00207% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00183%

Overall 0.00211% 34/1,614,054 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: CEBPG
Protein: p.Lys77Arg
Coding: c.230A>G
MANE Select: NM_001806
Type: single nucleotide variant
Location: chr19:33379469 (GRCh38)
Gene constraint: LOEUF 1.072 · pLI 0.04 (gnomAD)
Structure: AlphaFold pLDDT 76.64
Residue 77: the bzip domain; the 'disordered' region; the 'basic motif' region

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

Similar variants

CEBPG p.Ala37Ser Uncertain significance ★ ⚠ same type
CEBPG p.Ala37Val Uncertain significance ★ ⚠ same type
CEBPG p.Arg68Cys Uncertain significance ★ ⚠ same type
CEBPG p.Asp131Asn Uncertain significance ★ ⚠ same type
CEBPG p.Gln88Lys Uncertain significance ★ ⚠ same type
CEBPG p.Gly145Asp Uncertain significance ★ ⚠ same type
CEBPG p.Gly15Arg Uncertain significance ★ ⚠ same type
CEBPG p.Gly40Ala Uncertain significance ★ ⚠ same type

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/cebpg-p-lys77arg (accessed [today's date]).

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