EEF1AKMT2

Chr 10

EEF1A lysine methyltransferase 2

Also known as: C10orf138, Efm4, METTL10

Enables protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine methylation. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
1.25
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.25LOEUF
pLI 0.000
Z-score 0.83
OE 0.77 (0.491.25)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.25Z-score
OE missense 0.94 (0.811.09)
128 obs / 136.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.77 (0.491.25)
00.351.4
Missense OE?0.94 (0.811.09)
00.61.4
Synonymous OE?0.94
01.21.6
LoF obs/exp: 12 / 15.5Missense obs/exp: 128 / 136.3Syn Z: 0.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

EEF1AKMT2 · 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

No active trials found for this gene.

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