Is ART5 p.Ala182Thr (c.544G>A) pathogenic?

ART5 p.Ala182Thr (c.544G>A) is classified Uncertain significance in ART5 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-03-03). AlphaMissense: likely benign (0.0897); Very rare (popmax 0.00667%, amr).

How common is ART5 p.Ala182Thr (c.544G>A) in the general population?

ART5 p.Ala182Thr (c.544G>A) is very rare (popmax 0.00667%, amr) (gnomAD).

What do computational predictors say about ART5 p.Ala182Thr (c.544G>A)?

AlphaMissense predicts likely benign (score 0.0897) — an in-silico prediction, not a clinical call.

ART5 p.Ala182Thr

c.544G>A · rs747621214 · VCV2348250

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0897 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.00667%, amr)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.0897	likely benign
REVEL	0.078	moderately benign-leaning
SaProt	LLR -4.41	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 -4.1	GERP 1.7
Regional constraint	o/e 1.08	unconstrained · MANE · 3,121 bp · p 0.13 · regional, not allelic
Overall
CADD	13.92	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 0.00667% Admixed American · 4/60,002 alleles

Filtering AF 0.00226% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00135%

Overall 0.000434% 7/1,614,052 alleles · very rare

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.00667%	15,001
African / African-American	0.004%	24,982

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: ART5
Protein: p.Ala182Thr
Coding: c.544G>A
MANE Select: NM_053017
dbSNP: rs747621214
Type: single nucleotide variant
Location: chr11:3639885 (GRCh38)
Gene constraint: LOEUF 1.332 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 89.07
Residue 182: a disulfide bond; the tr mart core domain

Full ART5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ART5 p.Ala182Val Uncertain significance ★ ⚠ same residue
ART5 p.Ser271Thr Benign ★★ same type
ART5 p.Ala113Ser Uncertain significance ★ ⚠ same type
ART5 p.Ala208Thr Uncertain significance ★ ⚠ same type
ART5 p.Ala22Pro Uncertain significance ★ ⚠ same type
ART5 p.Ala22Thr Uncertain significance ★ ⚠ same type
ART5 p.Ala62Val Uncertain significance ★ ⚠ same type
ART5 p.Arg121Trp 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/art5-p-ala182thr (accessed [today's date]).

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