EEF1AKMT3

Chr 12

EEF1A lysine methyltransferase 3

Also known as: FAM119B, METTL21B

NCBI Gene: 25895ENSG00000123427UniProt: Q96AZ1OMIM: 615258

Enables heat shock protein binding activity and protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine methylation. Located in several cellular components, including centrosome; chromosome; and nucleoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.50
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.50LOEUF
pLI 0.000
Z-score 0.60
OE 0.77 (0.42–1.50)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.83Z-score
OE missense 0.79 (0.68–0.94)
103 obs / 129.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.77 (0.42–1.50)
0≤0.351.4
Missense OE?0.79 (0.68–0.94)
0≤0.61.4
Synonymous OE?0.75
0≤1.21.6
LoF obs/exp: 6 / 7.8Missense obs/exp: 103 / 129.6Syn Z: 1.50

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EEF1AKMT3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients