EIF4A3 p.Ala8=
c.24G>C · rs75880769 · VCV722993
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.82%, afr)
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 0.093 | GERP -2.3, phastCons 0.91 |
| Overall | ||
| CADD | 12.11 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.82%
African / African-American · 607/74,010 alleles
Filtering AF
0.766%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.745%
Overall
0.0401%
645/1,607,980 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.82% | 122 |
| Remaining individualsnot grpmax-eligible | 0.0353% | 2,830 |
| Middle Eastern | 0.0337% | 2,963 |
| Admixed American | 0.0167% | 5,985 |
| South Asian | 0.0033% | 30,261 |
| European (non-Finnish) | 8.49e-05% | 1,178,196 |
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
- EIF4A3
- Protein
- p.Ala8=
- Coding
- c.24G>C
- MANE Select
- NM_014740
- dbSNP
- rs75880769
- Type
- single nucleotide variant
- Location
- chr17:80146938 (GRCh38)
- Gene constraint
- LOEUF 0.084 · pLI 1.00 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 88.93 · 24 PDB
Similar variants
- EIF4A3 p.Asp384= Likely benign ★★ same type
- EIF4A3 p.Lys289= Benign/Likely benign ★★ same type
- EIF4A3 p.Ser84= Benign ★★ same type
- EIF4A3 p.Thr30= Benign ★★ same type
- EIF4A3 c.587-5C>G Conflicting classifications of pathogenicity ★ same type
- EIF4A3 p.Ala13Val Uncertain significance ★ ⚠ same type
- EIF4A3 p.Ala377Asp Uncertain significance ★ ⚠ same type
- EIF4A3 p.Ala55Thr 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/eif4a3-p-ala8 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown