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. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

LOEUF 1.60

Clinical Summary— EIF5A2

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

10 VUS of 14 total submissions

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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

ClinVar Variant Classifications

14 submitted variants in ClinVar

ClinVar

Classification Summary

VUS10

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	10	10
Likely Benign	0	0
Benign	0	0
Total	10	10

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

22 pathogenic / likely-pathogenic (of 23) ClinVar copy-number / structural variants overlap EIF5A2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →