IPO4 p.Asp636=
c.1908C>T · rs184433827 · VCV716382
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.323%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>T here scores Δ0.29 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -7.2 | GERP -5.4 |
| Overall | ||
| CADD | 1.399 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.323%
African / African-American · 242/75,000 alleles
Filtering AF
0.289%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.276%
Overall
0.021%
339/1,614,010 alleles · rare
exomes 198/1,461,788 · genomes 141/152,222 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.323% | 310 |
| South Asian | 0.0648% | 1,544 |
| Remaining individualsnot grpmax-eligible | 0.024% | 4,167 |
| Admixed American | 0.0233% | 4,288 |
| Middle Eastern | 0.0165% | 6,062 |
| Finnishnot grpmax-eligible | 0.00156% | 63,938 |
| European (non-Finnish) | 0.000593% | 168,572 |
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
- IPO4
- Protein
- p.Asp636=
- Coding
- c.1908C>T
- MANE Select
- NM_024658
- dbSNP
- rs184433827
- Type
- single nucleotide variant
- Location
- chr14:24183860 (GRCh38)
- Gene constraint
- LOEUF 0.803 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.05 · 4 PDB
Similar variants
- IPO4 p.Asp636Glu Uncertain significance ★ ⚠ same residue
- IPO4 p.Arg20Cys Benign ★★ ⚠ same type
- IPO4 p.Pro494Thr Benign ★★ same type
- IMP4 p.Ala21Val Uncertain significance ★ ⚠ same type
- IMP4 p.Ala282Thr Uncertain significance ★ ⚠ same type
- IMP4 p.Arg126Gln Uncertain significance ★ ⚠ same type
- IMP4 p.Arg170Trp Uncertain significance ★ ⚠ same type
- IMP4 p.Arg194Cys 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/ipo4-p-asp636 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown