CARMIL1

Chr 6

capping protein regulator and myosin 1 linker 1

Also known as: CARMIL, CARMIL1a, LRRC16, LRRC16A, dJ501N12.1, dJ501N12.5

NCBI Gene: 55604ENSG00000079691UniProt: Q5VZK9

Involved in several processes, including actin filament network formation; plasma membrane bounded cell projection organization; and positive regulation of cellular component organization. Located in several cellular components, including cytosol; lamellipodium; and macropinosome. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating 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
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.36
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.36LOEUF
pLI 0.034
Z-score 6.08
OE 0.25 (0.17–0.36)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.71Z-score
OE missense 0.72 (0.66–0.77)
512 obs / 716.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.25 (0.17–0.36)
0≤0.351.4
Missense OE?0.72 (0.66–0.77)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 19 / 76.4Missense obs/exp: 512 / 716.0Syn Z: 0.66

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CARMIL1 · 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