AMN1

Chr 12

antagonist of mitotic exit network 1 homolog

Predicted to be involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process. Predicted to be part of SCF ubiquitin ligase complex. Predicted to be active in microvillus membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
4
Pubs (1 yr)
P/LP submissions
P/LP missense
0.60
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.60LOEUF
pLI 0.325
Z-score 2.54
OE 0.23 (0.100.60)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.25Z-score
OE missense 0.69 (0.580.82)
92 obs / 132.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.23 (0.100.60)
00.351.4
Missense OE?0.69 (0.580.82)
00.61.4
Synonymous OE?0.86
01.21.6
LoF obs/exp: 3 / 12.8Missense obs/exp: 92 / 132.7Syn Z: 0.77

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

AMN1 · 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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