LOX p.Arg158=
c.474G>A · rs2152591314 · VCV1194695
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Cardiovascular phenotype
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 0.9 | GERP -0.047, phastCons 0.69 |
| Overall | ||
| CADD | 10.27 | 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
- LOX
- Protein
- p.Arg158=
- Coding
- c.474G>A
- MANE Select
- NM_002317
- dbSNP
- rs2152591314
- Type
- single nucleotide variant
- Location
- chr5:122077512 (GRCh38)
- Gene constraint
- LOEUF 0.503 · pLI 0.98 (gnomAD)
- Structure
- AlphaFold pLDDT 68.06
- Residue 158
- a UniProt-annotated variant site (in); the 'disordered' region
Similar variants
- LOX p.Arg158Gln Benign ★★ same residue
- LOX p.Arg158Leu Uncertain significance ★ ⚠ same residue
- LOX p.Arg281Ter Pathogenic/Likely pathogenic ★★ same condition
- LOX p.Gly202Ter Pathogenic/Likely pathogenic ★★ same condition
- LOX c.1247+1G>A Uncertain significance ★★ same condition
- LOX p.Ala100Thr Uncertain significance ★★ ⚠ same condition
- LOX p.Ala107Thr Uncertain significance ★★ ⚠ same condition
- LOX p.Ala147Thr 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/lox-p-arg158 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown