ACSL4 p.Arg581fs
c.1741del · VCV3572672
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 15 of 16 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.33 | GERP -3 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ACSL4
- Protein
- p.Arg581fs
- Coding
- c.1741del
- MANE Select
- NM_001318510
- Type
- Deletion
- Location
- chrX:109659468 (GRCh38)
- Structure
- AlphaFold pLDDT 90.46
Similar variants
- ACSL4 p.His282fs Pathogenic ★ same type
- ACSL4 p.Leu268fs Pathogenic ★ same type
- ACSL4 c.1583-7_1583-6del Uncertain significance ★ same type
- ACSL4 p.Pro334fs Uncertain significance ★ same type
- ACSL4 p.Val576fs Uncertain significance ★ same type
- ACSL4 p.Asn86fs Likely pathogenic 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-arg581fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown