IDE p.Ile791=
c.2373C>A · rs35640611 · VCV735020
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.29%, 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 -4.6 | GERP -4.3 |
| Overall | ||
| CADD | 1.144 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.29%
East Asian · 1,923/44,866 alleles
Filtering AF
4.13%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.06%
Overall
0.196%
3,161/1,613,784 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 4.29% | 23 |
| Finnishnot grpmax-eligible | 0.848% | 118 |
| Remaining individualsnot grpmax-eligible | 0.25% | 401 |
| South Asian | 0.107% | 939 |
| European (non-Finnish) | 0.0363% | 2,756 |
| Middle Eastern | 0.0165% | 6,060 |
| African / African-American | 0.012% | 8,334 |
| Admixed American | 0.00667% | 15,002 |
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
- IDE
- Protein
- p.Ile791=
- Coding
- c.2373C>A
- MANE Select
- NM_004969
- dbSNP
- rs35640611
- Type
- single nucleotide variant
- Location
- chr10:92465791 (GRCh38)
- Gene constraint
- LOEUF 0.638 · pLI 0.08 (gnomAD)
- Structure
- AlphaFold pLDDT 94.06 · 62 PDB
- Residue 791
- a β-strand
Similar variants
- IDE p.Asn841= Benign ★★ same type
- IDE p.His10= Benign/Likely benign ★★ same type
- IDE p.Ala185Glu Uncertain significance ★ ⚠ same type
- IDE p.Ala452Thr Uncertain significance ★ ⚠ same type
- IDE p.Ala479Thr Uncertain significance ★ ⚠ same type
- IDE p.Ala544Val Uncertain significance ★ ⚠ same type
- IDE p.Ala610Val Uncertain significance ★ ⚠ same type
- IDE p.Ala650Thr 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/ide-p-ile791 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown