SPRYD4

Chr 12

SPRY domain containing 4

NCBI Gene: 283377ENSG00000176422UniProt: Q8WW59

Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.33
LOEUF
GOF
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.33LOEUF
pLI 0.008
Z-score 1.01
OE 0.58 (0.29–1.33)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.81Z-score
OE missense 0.79 (0.67–0.94)
95 obs / 119.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.58 (0.29–1.33)
0≤0.351.4
Missense OE?0.79 (0.67–0.94)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 4 / 6.8Missense obs/exp: 95 / 119.9Syn Z: 0.12

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SPRYD4 · 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