FMNL3

Chr 12

formin like 3

Also known as: FHOD3, FRL2, WBP-3, WBP3

NCBI Gene: 91010ENSG00000161791UniProt: Q8IVF7

The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

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
5
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 0.465
Z-score 5.30
OE 0.22 (0.14–0.36)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.20Z-score
OE missense 0.75 (0.69–0.81)
449 obs / 601.1 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.22 (0.14–0.36)
0≤0.351.4
Missense OE?0.75 (0.69–0.81)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 12 / 54.1Missense obs/exp: 449 / 601.1Syn Z: -0.63

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FMNL3 · 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