EIF5A

Chr 17

eukaryotic translation initiation factor 5A

Also known as: EIF-5A, EIF5A1, FABAS, eIF-4D, eIF5AI

NCBI Gene: 1984 ENSG00000132507 UniProt: P63241

EIF5A encodes a translation factor that promotes ribosome rescue when stalled at specific amino acid sequences, particularly polyproline motifs, and regulates apoptosis and autophagy. Mutations cause Faundes-Banka syndrome with autosomal dominant inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.543), suggesting intolerance to complete protein loss.

ResearchSummary from RefSeq, OMIM, UniProt

Enables U6 snRNA binding activity. Involved in several processes, including cellular response to virus; positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator; and tumor necrosis factor-mediated signaling pathway. Located in annulate lamellae; cytoplasm; and nucleus. Part of nuclear pore. Biomarker of colorectal cancer. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.54

Clinical Summary— EIF5A

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.74) — some intolerance to loss-of-function variants.

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ClinVar Variants

14 unique Pathogenic / Likely Pathogenic· 21 VUS of 53 total submissions

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Clinical Trials

2 active or recruiting trials — potential therapeutic options may be available

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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.54LOEUF

pLI 0.737

Z-score 2.43

OE 0.11 (0.04–0.54)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

2.41Z-score

OE missense 0.34 (0.26–0.45)

35 obs / 104.1 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.11 (0.04–0.54)

0≤0.351.4

Missense OE?0.34 (0.26–0.45)

0≤0.61.4

Synonymous OE?1.36

0≤1.21.6

LoF obs/exp: 1 / 8.7Missense obs/exp: 35 / 104.1Syn Z: -1.83

ClinVar Variant Classifications

53 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5

Likely Pathogenic9

VUS21

Likely Benign6

Benign1

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	2	3	0	0	5
Likely Pathogenic	5	4	0	0	9
VUS	3	18	0	0	21
Likely Benign	0	1	1	4	6
Benign	0	0	1	0	1
Total	10	26	2	4	42

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

View in ClinVar →

30 pathogenic / likely-pathogenic (of 38) ClinVar copy-number / structural variants overlap EIF5A — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →