NOX4 p.Arg95=
c.285G>A · rs144387171 · VCV712108
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.85%, mid)
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 3.5 | GERP 0.26, phastCons 1 |
| Overall | ||
| CADD | 8.114 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.85%
Middle Eastern · 172/6,038 alleles
Filtering AF
2.5%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.37%
Overall
0.096%
1,547/1,611,686 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 2.85% | 35 |
| Ashkenazi Jewishnot grpmax-eligible | 0.887% | 113 |
| Remaining individualsnot grpmax-eligible | 0.197% | 507 |
| Admixed American | 0.139% | 720 |
| South Asian | 0.108% | 927 |
| African / African-American | 0.0814% | 1,228 |
| European (non-Finnish) | 0.0631% | 1,584 |
| East Asian | 0.00447% | 22,354 |
| Finnishnot grpmax-eligible | 0.00313% | 31,972 |
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
- NOX4
- Protein
- p.Arg95=
- Coding
- c.285G>A
- MANE Select
- NM_016931
- dbSNP
- rs144387171
- Type
- single nucleotide variant
- Location
- chr11:89449504 (GRCh38)
- Gene constraint
- LOEUF 1.018 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.98
- Residue 95
- the ferric oxidoreductase domain
Similar variants
- NOX4 c.1218-6C>T Benign ★★ same type
- NOX4 p.Arg470Cys Benign ★★ same type
- NOX4 p.Leu97Phe Likely benign ★★ same type
- NOX4 p.Pro224= Likely benign ★★ same type
- NOX4 p.Ala10Thr Uncertain significance ★ ⚠ same type
- NOX4 p.Ala333Thr Uncertain significance ★ ⚠ same type
- NOX4 p.Arg231Gln Uncertain significance ★ ⚠ same type
- NOX4 p.Arg304Trp Uncertain significance ★ ⚠ 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/nox4-p-arg95 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown