ACSL4 p.Thr594=
c.1782T>G · rs749815932 · VCV194510
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0123%, 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 0.92 | GERP -2.5, phastCons 0.98 |
| Overall | ||
| CADD | 8.896 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0123%
African / African-American · 7/56,911 alleles
Filtering AF
0.0057%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00407%
Overall
0.000581%
7/1,204,954 alleles · ultra-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
- ACSL4
- Protein
- p.Thr594=
- Coding
- c.1782T>G
- MANE Select
- NM_001318510
- dbSNP
- rs749815932
- Type
- single nucleotide variant
- Location
- chrX:109659427 (GRCh38)
- Structure
- AlphaFold pLDDT 90.46
Similar variants
- ACSL4 p.Arg631Gln Uncertain significance ★★ ⚠ same type
- ACSL4 p.Asn95Asp Uncertain significance ★★ ⚠ same type
- ACSL4 p.Asn95Ser Uncertain significance ★★ ⚠ same type
- ACSL4 p.Asp521Asn Uncertain significance ★★ ⚠ same type
- ACSL4 p.His150Leu Uncertain significance ★★ ⚠ same type
- ACSL4 p.His23Arg Uncertain significance ★★ ⚠ same type
- ACSL4 p.Lys271Arg Uncertain significance ★★ ⚠ same type
- ACSL4 p.Lys388Arg 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/acsl4-p-thr594 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown