IRF3 p.Ser231=
c.693C>T · rs145949138 · VCV2650281
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.111%, nfe)
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 -2.9 | |
| Overall | ||
| CADD | 2.264 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.111%
European (non-Finnish) · 1,312/1,180,060 alleles
Filtering AF
0.106%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.104%
Overall
0.0855%
1,379/1,613,806 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.111% | 899 |
| Remaining individualsnot grpmax-eligible | 0.0704% | 1,420 |
| African / African-American | 0.0187% | 5,354 |
| Finnishnot grpmax-eligible | 0.00942% | 10,617 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,606 |
| Admixed American | 0.00167% | 60,014 |
| South Asian | 0.0011% | 91,090 |
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.Ser231=
- Coding
- c.693C>T
- MANE Select
- NM_001571
- dbSNP
- rs145949138
- Type
- single nucleotide variant
- Location
- chr19:49662237 (GRCh38)
- Gene constraint
- LOEUF 0.949 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.58 · 18 PDB
- Residue 231
- the 'mediates interaction with zdhhc11' region; the 'interaction with herc5' region
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-ser231 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown