ALOX15 p.Pro565=
c.1695G>A · rs147458306 · VCV786301
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.722%, afr)
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 -16 | GERP -3.8 |
| Overall | ||
| CADD | 0.808 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.722%
African / African-American · 542/75,034 alleles
Filtering AF
0.672%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.652%
Overall
0.042%
678/1,613,680 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.722% | 138 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0676% | 1,480 |
| Admixed American | 0.0417% | 2,399 |
| Remaining individualsnot grpmax-eligible | 0.0416% | 2,403 |
| Middle Eastern | 0.0165% | 6,062 |
| European (non-Finnish) | 0.00534% | 18,729 |
| South Asian | 0.0011% | 90,996 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- ALOX15
- Protein
- p.Pro565=
- Coding
- c.1695G>A
- MANE Select
- NM_001140
- dbSNP
- rs147458306
- Type
- single nucleotide variant
- Location
- chr17:4632003 (GRCh38)
- Gene constraint
- LOEUF 1.117 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.46
- Residue 565
- the lipoxygenase domain
Similar variants
- ALOX15 p.Gly102Val Uncertain significance ★★ ⚠ same type
- ALOX15 c.1418+9A>G Benign ★★ same type
- ALOX15 p.Arg205Gln Benign ★★ ⚠ same type
- ALOX15 p.Arg348= Benign ★★ same type
- ALOX15 p.Asn103Lys Benign ★★ same type
- ALOX15 p.Asp90His Likely benign ★★ same type
- ALOX15 p.Pro617Ser Benign ★★ same type
- ALOX15 p.Val426Gly Likely benign ★★ ⚠ 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/alox15-p-pro565 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown