EIF3L

Chr 22

eukaryotic translation initiation factor 3 subunit L

Also known as: EIF3EIP, EIF3S11, EIF3S6IP, HSPC021, HSPC025, MSTP005

NCBI Gene: 51386 ENSG00000100129 UniProt: Q9Y262 OMIM: 619197

EIF3L encodes a component of the eukaryotic translation initiation factor 3 complex, which is essential for protein synthesis initiation, mRNA recruitment to ribosomes, and regulation of translation for genes involved in cell proliferation and apoptosis. The gene is highly constrained against loss-of-function variants (pLI 0.84, LOEUF 0.37), but no established Mendelian diseases have been definitively associated with EIF3L mutations in current clinical literature. Given the fundamental role in translation and high constraint metrics, pathogenic variants would likely follow an autosomal dominant inheritance pattern if disease associations are established.

OMIM ResearchSummary from RefSeq, UniProt

Enables RNA binding activity. Contributes to translation initiation factor activity. Involved in translational initiation and viral translational termination-reinitiation. Located in membrane. Part of eukaryotic translation initiation factor 3 complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 0.37

Clinical Summary— EIF3L

⚡

Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.84) — some intolerance to loss-of-function variants.

📋

ClinVar Variants

35 VUS of 70 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.37LOEUF

pLI 0.838

Z-score 4.30

OE 0.19 (0.10–0.37)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

2.70Z-score

OE missense 0.58 (0.52–0.66)

191 obs / 328.9 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.19 (0.10–0.37)

0≤0.351.4

Missense OE?0.58 (0.52–0.66)

0≤0.61.4

Synonymous OE?1.01

0≤1.21.6

LoF obs/exp: 6 / 32.4Missense obs/exp: 191 / 328.9Syn Z: -0.09

ClinVar Variant Classifications

70 submitted variants in ClinVar

ClinVar

Classification Summary

VUS35

Likely Benign1

Benign1

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	35	0	35
Likely Benign	0	1	1
Benign	0	1	1
Total	35	2	37

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

View in ClinVar →

24 pathogenic / likely-pathogenic (of 26) ClinVar copy-number / structural variants overlap EIF3L — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →