ACOX1 p.Phe107Val
c.319T>G · VCV3345274
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| REVEL | 0.697 | pathogenic-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | Δ0.22 | acceptor loss, 24 bp away · masked 0 · deltas |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 2.7, phastCons 1 |
| Regional constraint | o/e 0.68 | unconstrained · MANE · 29 kb · p 1.3e-14 · regional, not allelic |
| Overall | ||
| CADD | 28.2 | 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.Phe107Val
- Coding
- c.319T>G
- MANE Select
- NM_004035
- Type
- single nucleotide variant
- Location
- chr17:75960326 (GRCh38)
- Gene constraint
- LOEUF 0.67 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 93.95
Similar variants
- ACOX1 p.Phe107fs Pathogenic ★ same residue
- ACOX1 c.538+1G>A Pathogenic/Likely pathogenic ★★ same type
- ACOX1 c.945-1G>C Likely pathogenic ★★ same type
- ACOX1 p.Arg148Ter Pathogenic ★★ same type
- ACOX1 p.Arg302Ter Pathogenic ★★ same type
- ACOX1 p.Arg94Ter Pathogenic ★★ same type
- ACOX1 p.Asn237Ser Pathogenic/Likely pathogenic ★★ same type
- ACOX1 p.Gln114Ter Pathogenic/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/acox1-p-phe107val (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown