IPO5 p.Thr191=
c.573G>A · rs145817156 · VCV771466
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.74%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.027 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.49 | GERP -3.8 |
| Overall | ||
| CADD | 6.417 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.74%
East Asian · 778/44,752 alleles
Filtering AF
1.64%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.6%
Overall
0.0961%
1,534/1,596,650 alleles · low-frequency
exomes 1,308/1,444,344 · genomes 226/152,306 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 1.74% | 58 |
| Admixed American | 1.09% | 92 |
| Remaining individualsnot grpmax-eligible | 0.0758% | 1,319 |
| South Asian | 0.0644% | 1,553 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0411% | 2,433 |
| African / African-American | 0.0121% | 8,236 |
| European (non-Finnish) | 0.00222% | 45,131 |
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
- IPO5
- Protein
- p.Thr191=
- Coding
- c.573G>A
- MANE Select
- NM_002271
- dbSNP
- rs145817156
- Type
- single nucleotide variant
- Location
- chr13:97990441 (GRCh38)
- Gene constraint
- LOEUF 0.156 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 92.12 · 3 PDB
- Residue 191
- an α-helix
Similar variants
- IPO5 p.Arg922= Benign ★★ same type
- IPO5 p.Gln8His Uncertain significance ★ ⚠ same type
- IPO5 p.Lys506Arg Uncertain significance ★ ⚠ same type
- IPO5 p.Lys775Met 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/ipo5-p-thr191 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown