EIF4G1 p.Pro14=
c.42A>C · rs1722671223 · VCV3049318
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.93%, nfe)
Conditions
1
EIF4G1-related disorder
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 0.71 | GERP -0.56, phastCons 0.97 |
| Overall | ||
| CADD | 10.56 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.93%
European (non-Finnish) · 9,588/327,324 alleles
Filtering AF
2.88%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.86%
Overall
1.8%
10,465/581,270 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 2.93% | 34 |
| Remaining individualsnot grpmax-eligible | 1.69% | 59 |
| Middle Eastern | 0.635% | 158 |
| Ashkenazi Jewishnot grpmax-eligible | 0.452% | 221 |
| African / African-American | 0.336% | 297 |
| South Asian | 0.327% | 306 |
| East Asian | 0.197% | 507 |
| Admixed American | 0.0282% | 3,544 |
| Finnishnot grpmax-eligible | 0.00775% | 12,902 |
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
- EIF4G1
- Protein
- p.Pro14=
- Coding
- c.42A>C
- MANE Select
- NM_198241
- dbSNP
- rs1722671223
- Type
- single nucleotide variant
- Location
- chr3:184315838 (GRCh38)
- Gene constraint
- LOEUF 0.048 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 56.06 · 14 PDB
- Residue 14
- the 'disordered' region
Disease context
EIF4G1-related disorder
Similar variants
- EIF4G1 p.Val1479Leu Uncertain significance ★★ ⚠ same condition
- EIF4G1 p.Ala159Ser Uncertain significance ★ ⚠ same condition
- EIF4G1 p.Ala1181Asp Uncertain significance ⚠ same condition
- EIF4G1 p.Arg231Pro Uncertain significance ⚠ same condition
- EIF4G1 p.Pro245Leu Uncertain significance ⚠ same condition
- EIF4G1 p.Pro492Leu Uncertain significance ⚠ same condition
- EIF4G1 p.Thr829Ser Uncertain significance ⚠ same condition
- EIF4G1 c.2856+8T>G Likely benign same condition
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/eif4g1-p-pro14 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown