ACSL4 p.Leu38=
c.112C>T · rs762022946 · VCV758383
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.048%, amr)
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 3.5 | GERP 1.1, phastCons 1 |
| Overall | ||
| CADD | 8.246 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.048%
Admixed American · 22/45,802 alleles
Filtering AF
0.0325%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0274%
Overall
0.0043%
52/1,210,353 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.048% | 2,082 |
| European (non-Finnish) | 0.00324% | 30,869 |
| Remaining individualsnot grpmax-eligible | 0.0021% | 47,601 |
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.Leu38=
- Coding
- c.112C>T
- MANE Select
- NM_001318510
- dbSNP
- rs762022946
- Type
- single nucleotide variant
- Location
- chrX:109683252 (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-leu38 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown