ABLIM1
Chr 10actin binding LIM protein 1
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
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.33
LOEUF· LoF intol.
Multiple*
Mechanism· predicted
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.33LOEUF
pLI 0.930
Z-score 5.23
OE 0.19 (0.11–0.33)
Highly LoF-intolerant (top ~10% of genes)
Missense Constraint?
1.62Z-score
OE missense 0.79 (0.73–0.86)
376 obs / 475.1 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.19 (0.11–0.33)
0≤0.351.4
Missense OE?0.79 (0.73–0.86)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 9 / 48.2Missense obs/exp: 376 / 475.1Syn Z: 0.08
ClinVar
No ClinVar data available.
Protein Context — Lollipop Plot
ABLIM1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools