IPO11 p.Ala726=
c.2178A>G · rs34906196 · VCV783436
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.99%, afr)
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 1.7 | GERP 0.54, phastCons 1 |
| Overall | ||
| CADD | 6.617 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.99%
African / African-American · 2,967/74,398 alleles
Filtering AF
3.87%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.82%
Overall
0.205%
3,252/1,587,970 alleles · low-frequency
exomes 1,588/1,435,668 · genomes 1,664/152,302 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.99% | 25 |
| Remaining individualsnot grpmax-eligible | 0.228% | 439 |
| Admixed American | 0.167% | 600 |
| Middle Eastern | 0.1% | 996 |
| South Asian | 0.00676% | 14,803 |
| European (non-Finnish) | 0.00293% | 34,103 |
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
- IPO11
- Protein
- p.Ala726=
- Coding
- c.2178A>G
- MANE Select
- NM_016338
- dbSNP
- rs34906196
- Type
- single nucleotide variant
- Location
- chr5:62537217 (GRCh38)
- Gene constraint
- LOEUF 0.598 · pLI 0.10 (gnomAD)
- Structure
- AlphaFold pLDDT 93.53
Similar variants
- IPO11 p.Thr409Ala Uncertain significance ★★ ⚠ same type
- IPO11 p.Asn260Asp Benign ★★ same type
- IPO11 p.Leu112= Benign ★★ same type
- IPO11 p.Leu246= Benign ★★ same type
- IPO11 p.Leu799= Benign ★★ same type
- IPO11 p.Ala110Val Uncertain significance ★ ⚠ same type
- IPO11 p.Ala332Thr Uncertain significance ★ ⚠ same type
- IPO11 p.Ala452Ser 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/ipo11-p-ala726 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown