IRF3 p.Val295=
c.885G>A · rs762507542 · VCV3040695
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0958%, eas)
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 0.98 | phastCons 1 |
| Overall | ||
| CADD | 5.53 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0958%
East Asian · 43/44,890 alleles
Filtering AF
0.0731%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.065%
Overall
0.00273%
44/1,614,000 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0958% | 1,044 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,484 |
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
- IRF3
- Protein
- p.Val295=
- Coding
- c.885G>A
- MANE Select
- NM_001571
- dbSNP
- rs762507542
- Type
- single nucleotide variant
- Location
- chr19:49662045 (GRCh38)
- Gene constraint
- LOEUF 0.949 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.58 · 18 PDB
- Residue 295
- the 'mediates interaction with zdhhc11' region; the 'interaction with herc5' region; a β-strand
Similar variants
- IRF3 p.Arg213Cys Uncertain significance ★★ ⚠ same type
- IRF3 p.Arg96Trp Uncertain significance ★★ ⚠ same type
- IRF3 p.Asn28Lys Uncertain significance ★★ ⚠ same type
- IRF3 p.Asp45Asn Uncertain significance ★★ ⚠ same type
- IRF3 p.Gln15Arg Uncertain significance ★★ ⚠ same type
- IRF3 p.Leu344Phe Uncertain significance ★★ ⚠ same type
- IRF3 p.Ser97Arg Uncertain significance ★★ ⚠ same type
- IRF3 p.Val319Met 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/irf3-p-val295 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown