ILDR1 p.Ile172=
c.516C>T · rs766344111 · VCV2892403
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.005%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 3.3 | GERP 0.056, phastCons 1 |
| Overall | ||
| CADD | 10.32 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.005%
Admixed American · 3/60,020 alleles
Filtering AF
0.00133%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000668%
Overall
0.000248%
4/1,614,128 alleles · very rare
exomes 4/1,461,864 · genomes 0/152,264 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.005% | 20,007 |
| European (non-Finnish) | 8.47e-05% | 1,180,002 |
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
- ILDR1
- Protein
- p.Ile172=
- Coding
- c.516C>T
- MANE Select
- NM_001199799
- dbSNP
- rs766344111
- Type
- single nucleotide variant
- Location
- chr3:122001438 (GRCh38)
- Gene constraint
- LOEUF 1.103 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 58.87
Similar variants
- ILDR1 p.Arg259Ter Pathogenic/Likely pathogenic ★★ same type
- ILDR1 p.Arg462Ter Pathogenic/Likely pathogenic ★★ same type
- ILDR1 p.Cys314Ter Pathogenic/Likely pathogenic ★★ same type
- ILDR1 p.Gln195Ter Pathogenic/Likely pathogenic ★★ same type
- ILDR1 p.Gln274Ter Pathogenic ★★ same type
- ILDR1 p.Gly141Arg Pathogenic/Likely pathogenic ★★ same type
- ILDR1 c.-4C>T Uncertain significance ★★ same type
- ILDR1 p.Ala178Pro 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/ildr1-p-ile172 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown