DUOX2 p.Phe720fs
c.2157del · rs2504765090 · VCV2814313
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 18 of 34 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 9.4 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- DUOX2
- Protein
- p.Phe720fs
- Coding
- c.2157del
- MANE Select
- NM_001363711
- dbSNP
- rs2504765090
- Type
- Deletion
- Location
- chr15:45105820 (GRCh38)
- Gene constraint
- LOEUF 1.165 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.37
Similar variants
- DUOX2 p.Phe720Leu Uncertain significance ★ ⚠ same residue
- DUOX2 p.Phe720= Likely benign ★ same residue
- DUOX2 c.3516_3531del Pathogenic ★★ same type
- DUOX2 p.Ala1004fs Likely pathogenic ★★ same type
- DUOX2 p.Gln202fs Pathogenic/Likely pathogenic ★★ same type
- DUOX2 p.Gln466fs Pathogenic/Likely pathogenic ★★ same type
- DUOX2 p.Glu127fs Pathogenic/Likely pathogenic ★★ same type
- DUOX2 p.Glu160fs 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/duox2-p-phe720fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown