ACSL4 p.Leu358=
c.1074G>T · rs189693653 · VCV1784509
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0154%, amr)
Conditions
1
Inborn genetic diseases
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 -0.81 | GERP -3.6, phastCons 0.005 |
| Overall | ||
| CADD | 3.326 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0154%
Admixed American · 7/45,506 alleles
Filtering AF
0.00717%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00509%
Overall
0.000593%
7/1,180,374 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.Leu358=
- Coding
- c.1074G>T
- MANE Select
- NM_001318510
- dbSNP
- rs189693653
- Type
- single nucleotide variant
- Location
- chrX:109669102 (GRCh38)
- Structure
- AlphaFold pLDDT 90.46
Similar variants
- ACSL4 p.Asn95Asp Uncertain significance ★★ ⚠ same condition
- ACSL4 p.Asn95Ser Uncertain significance ★★ ⚠ same condition
- ACSL4 p.His23Arg Uncertain significance ★★ ⚠ same condition
- ACSL4 p.Pro404Leu Uncertain significance ★★ ⚠ same condition
- ACSL4 p.Ser501Tyr Uncertain significance ★★ ⚠ same condition
- ACSL4 p.Tyr132Cys Uncertain significance ★★ ⚠ same condition
- ACSL4 p.Asn153Ser Benign/Likely benign ★★ ⚠ same condition
- ACSL4 p.Asp503= Likely benign ★★ same condition
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-leu358 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown