Is MAX p.Gln98Arg (c.293A>G) pathogenic?

MAX p.Gln98Arg (c.293A>G) is classified Uncertain significance in MAX (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-12-01). AlphaMissense: likely pathogenic (0.8691); Absent from gnomAD v4.1.

How common is MAX p.Gln98Arg (c.293A>G) in the general population?

MAX p.Gln98Arg (c.293A>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about MAX p.Gln98Arg (c.293A>G)?

AlphaMissense predicts likely pathogenic (score 0.8691) — an in-silico prediction, not a clinical call.

MAX p.Gln98Arg

c.293A>G · rs2504194034 · VCV3253101

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

AlphaMissense

likely pathogenic

0.8691 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

2/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.8691	likely pathogenic
REVEL	0.814	moderately pathogenic-leaning
SaProt	LLR -9.66	tolerated
⇒ AlphaMissense and REVEL call this damaging; SaProt does not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 8	GERP 1.9, phastCons 1
Regional constraint	o/e 0.64	unconstrained · MANE · 17 kb · p 1.3e-05 · regional, not allelic
Overall
CADD	24.4	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

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: MAX
Protein: p.Gln98Arg
Coding: c.293A>G
MANE Select: NM_002382
dbSNP: rs2504194034
Type: single nucleotide variant
Location: chr14:65077915 (GRCh38)
Gene constraint: LOEUF 0.288 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 82.07 · 12 PDB
Residue 98: a UniProt-annotated variant site (in pcc; does not repress myc transcriptional activity); a UniProt-annotated variant site (in pcc; uncertain significance); the 'leucine-zipper' region; an α-helix

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

Similar variants

MAX c.295+1G>A Pathogenic ★★ same type
MAX c.295+1G>T Pathogenic ★★ same type
MAX p.Ala67Asp Pathogenic/Likely pathogenic ★★ same type
MAX p.Arg33Ter Pathogenic ★★ same type
MAX p.Arg75Ter Pathogenic ★★ same type
MAX p.Gln19Ter Pathogenic/Likely pathogenic ★★ same type
MAX p.Gln91Ter Pathogenic ★★ same type
MAX p.Gln97Ter Pathogenic ★★ 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/max-p-gln98arg (accessed [today's date]).

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