EIF5A2

Chr 3

eukaryotic translation initiation factor 5A2

Also known as: EIF-5A2, eIF5AII

NCBI Gene: 56648 ENSG00000163577 UniProt: Q9GZV4 OMIM: 605782

Predicted to enable translation elongation factor activity. Predicted to be involved in translational elongation. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.60

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.60LOEUF

pLI 0.000

Z-score 0.40

OE 0.84 (0.46–1.60)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

1.24Z-score

OE missense 0.62 (0.50–0.78)

53 obs / 85.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.84 (0.46–1.60)

0≤0.351.4

Missense OE?0.62 (0.50–0.78)

0≤0.61.4

Synonymous OE?0.93

0≤1.21.6

LoF obs/exp: 6 / 7.2Missense obs/exp: 53 / 85.1Syn Z: 0.30

Background carrier burden — how many people carry a rare variant somewhere in EIF5A2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 770

160 rare PASS variants

Rare truncating (LoF)

1 in 5,200

34 rare PASS variants

Rare synonymous (reference)

1 in 4,300

43 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for EIF5A2. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 8 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 1,000	1 in 4,500
South Asian	~43k	1 in 210	1 in 5,300
Remaining (unassigned)	~30k	1 in 1,100	≈ 1 in 15,000
European (Finnish)	~27k	1 in 530	≈ 1 in 27,000
Admixed American	~22k	1 in 660	≈ 1 in 7,400
African / African American	~21k	1 in 870	≈ 1 in 8,400
East Asian	~20k	1 in 560	≈ 1 in 9,800
Middle Eastern	~2,884	≈ 1 in 960	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 4 coding exons well covered in gnomAD exomes and genomes.? see exons ↓