EIF1AD

Chr 11

eukaryotic translation initiation factor 1A domain containing

Also known as: OBELIX, haponin

NCBI Gene: 84285 ENSG00000175376 UniProt: Q8N9N8 OMIM: 618473

This protein functions as a translation initiation factor with RNA binding activity and is involved in cellular response to oxidative stress. Mutations cause autosomal recessive intellectual disability with language impairment and autistic behaviors. The gene shows low constraint to loss-of-function variation, consistent with recessive inheritance.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable RNA binding activity and translation initiation factor activity. Predicted to be involved in translational initiation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.19

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.19LOEUF

pLI 0.003

Z-score 1.20

OE 0.57 (0.29–1.19)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.52Z-score

OE missense 0.85 (0.70–1.02)

78 obs / 92.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.57 (0.29–1.19)

0≤0.351.4

Missense OE?0.85 (0.70–1.02)

0≤0.61.4

Synonymous OE?1.14

0≤1.21.6

LoF obs/exp: 5 / 8.8Missense obs/exp: 78 / 92.0Syn Z: -0.62

Background carrier burden — how many people carry a rare variant somewhere in EIF1AD?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 260

182 rare PASS variants

Rare truncating (LoF)

1 in 8,000

31 rare PASS variants

Rare synonymous (reference)

1 in 1,300

84 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for EIF1AD. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 630	1 in 6,000
South Asian	~43k	1 in 550	≈ 1 in 22,000
Remaining (unassigned)	~30k	1 in 250	1 in 5,000
European (Finnish)	~27k	1 in 3,000	≈ 1 in 27,000
Admixed American	~22k	1 in 500	none seen
African / African American	~21k	1 in 310	≈ 1 in 21,000
East Asian	~20k	1 in 220	≈ 1 in 19,000
Ashkenazi Jewish	~13k	1 in 650	none seen
Middle Eastern	~2,884	1 in 360	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓