ART1 p.Arg140=
c.420C>T · rs111942933 · VCV729174
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.74%, afr)
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 0.66 | GERP 0.82, phastCons 1 |
| Overall | ||
| CADD | 8.106 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.74%
African / African-American · 1,310/75,072 alleles
Filtering AF
1.67%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.63%
Overall
0.0944%
1,523/1,613,668 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.74% | 57 |
| Middle Eastern | 0.132% | 758 |
| Remaining individualsnot grpmax-eligible | 0.128% | 781 |
| Admixed American | 0.105% | 953 |
| South Asian | 0.00659% | 15,173 |
| European (non-Finnish) | 0.00475% | 21,069 |
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
- ART1
- Protein
- p.Arg140=
- Coding
- c.420C>T
- MANE Select
- NM_004314
- dbSNP
- rs111942933
- Type
- single nucleotide variant
- Location
- chr11:3659939 (GRCh38)
- Gene constraint
- LOEUF 1.476 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.03
- Residue 140
- a disulfide bond; the tr mart core domain
Similar variants
- ART1 p.Arg140Cys Uncertain significance ★ ⚠ same residue
- ART1 p.Leu43= Benign ★★ same type
- ART1 p.Ala120Pro Uncertain significance ★ ⚠ same type
- ART1 p.Ala133Val Uncertain significance ★ ⚠ same type
- ART1 p.Ala138Val Uncertain significance ★ ⚠ same type
- ART1 p.Ala161Ser Uncertain significance ★ ⚠ same type
- ART1 p.Ala227Gly Uncertain significance ★ ⚠ same type
- ART1 p.Ala227Ser 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/art1-p-arg140 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown