FAM24B

Chr 10

family with sequence similarity 24 member B

NCBI Gene: 196792ENSG00000213185UniProt: Q8N5W8

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.90
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.90LOEUF
pLI 0.088
Z-score -0.07
OE 1.07 (0.27–1.90)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.49Z-score
OE missense 0.81 (0.63–1.04)
43 obs / 53.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.07 (0.27–1.90)
0≤0.351.4
Missense OE?0.81 (0.63–1.04)
0≤0.61.4
Synonymous OE?0.73
0≤1.21.6
LoF obs/exp: 1 / 0.9Missense obs/exp: 43 / 53.1Syn Z: 1.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FAM24B · 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