ACSL4 p.Pro334fs
c.1001del · VCV3359030
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
intellectual disability, X-linked 63
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 9 of 16 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.73 | GERP -3.2, phastCons 0.006 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ACSL4
- Protein
- p.Pro334fs
- Coding
- c.1001del
- MANE Select
- NM_001318510
- Type
- Deletion
- Location
- chrX:109674403 (GRCh38)
- Structure
- AlphaFold pLDDT 90.46
Similar variants
- ACSL4 p.Pro334Leu Likely pathogenic ★ same residue
- ACSL4 p.Leu268fs Pathogenic ★ same condition
- ACSL4 p.Pro334Gly Uncertain significance ★ same residue
- ACSL4 p.Asn86fs Likely pathogenic same condition
- ACSL4 p.Arg631Gln Uncertain significance ★★ ⚠ same condition
- ACSL4 p.Asp521Asn Uncertain significance ★★ ⚠ same condition
- ACSL4 p.His23Arg Uncertain significance ★★ ⚠ same condition
- ACSL4 p.Lys271Arg Uncertain significance ★★ ⚠ 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-pro334fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown