DUOX1 p.Phe205=
c.615T>C · rs2258993 · VCV2645295
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.222%, 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 0.2 | GERP -1.5, phastCons 0.99 |
| Overall | ||
| CADD | 7.895 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.222%
African / African-American · 164/73,738 alleles
Filtering AF
0.195%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.184%
Overall
0.141%
2,188/1,556,122 alleles · rare
exomes 1,801/1,404,432 · genomes 387/151,690 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.222% | 450 |
| Remaining individualsnot grpmax-eligible | 0.193% | 519 |
| Middle Eastern | 0.155% | 644 |
| Finnishnot grpmax-eligible | 0.151% | 662 |
| European (non-Finnish) | 0.147% | 679 |
| South Asian | 0.0854% | 1,171 |
| Admixed American | 0.0699% | 1,430 |
| East Asian | 0.0236% | 4,239 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00348% | 28,748 |
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
- DUOX1
- Protein
- p.Phe205=
- Coding
- c.615T>C
- MANE Select
- NM_175940
- dbSNP
- rs2258993
- Type
- single nucleotide variant
- Location
- chr15:45135593 (GRCh38)
- Gene constraint
- LOEUF 0.89 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.72 · 2 PDB
- Residue 205
- the 'peroxidase-like' region
Similar variants
- DUOX1 p.Arg1464Ser Uncertain significance ★★ ⚠ same type
- DUOX1 c.1389+9G>T Benign ★★ same type
- DUOX1 p.Arg795Trp Benign ★★ same type
- DUOX1 p.Cys1414= Benign ★★ same type
- DUOX1 p.Leu1178Phe Benign ★★ same type
- DUOX1 p.Ser1094= Benign ★★ same type
- DUOX1 p.Ala1053Gly Uncertain significance ★ ⚠ same type
- DUOX1 p.Ala1125Thr 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/duox1-p-phe205 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown