ACOX1 p.Leu147=
c.441T>C · rs2144262971 · VCV1090632
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
peroxisomal acyl-CoA oxidase deficiency
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 2.9 | GERP -1.1, phastCons 1 |
| Overall | ||
| CADD | 9.349 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ACOX1
- Protein
- p.Leu147=
- Coding
- c.441T>C
- MANE Select
- NM_004035
- dbSNP
- rs2144262971
- Type
- single nucleotide variant
- Location
- chr17:75957556 (GRCh38)
- Gene constraint
- LOEUF 0.67 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 93.95
Disease context
peroxisomal acyl-CoA oxidase deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Peroxisomal acyl-CoA oxidase deficiency (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Neonatal
Similar variants
- ACOX1 c.538+1G>A Pathogenic/Likely pathogenic ★★ same condition
- ACOX1 c.945-1G>C Likely pathogenic ★★ same condition
- ACOX1 p.Arg148Ter Pathogenic ★★ same condition
- ACOX1 p.Arg302Ter Pathogenic ★★ same condition
- ACOX1 p.Arg94Ter Pathogenic ★★ same condition
- ACOX1 p.Asn237Ser Pathogenic/Likely pathogenic ★★ same condition
- ACOX1 p.Gln114Ter Pathogenic/Likely pathogenic ★★ same condition
- ACOX1 p.Glu84Ter Pathogenic/Likely pathogenic ★★ 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/acox1-p-leu147 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown