SPINK14

Chr 5

serine peptidase inhibitor Kazal type 14 (putative)

Also known as: SPINK5L2

NCBI Gene: 408187ENSG00000196800UniProt: Q6IE38

Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of proteolysis. Predicted to be active in extracellular region. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.39
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.39LOEUF
pLI 0.024
Z-score 0.98
OE 0.55 (0.25–1.39)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.96Z-score
OE missense 0.62 (0.46–0.83)
31 obs / 50.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.55 (0.25–1.39)
0≤0.351.4
Missense OE?0.62 (0.46–0.83)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 3 / 5.5Missense obs/exp: 31 / 50.2Syn Z: -0.09

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SPINK14 · 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