PRR9

Chr 1

proline rich 9

NCBI Gene: 574414ENSG00000203783UniProt: Q5T870

ResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.94
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.94LOEUF
pLI 0.000
Z-score -1.06
OE 1.54 (0.81–1.94)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.45Z-score
OE missense 0.83 (0.66–1.06)
47 obs / 56.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.54 (0.81–1.94)
0≤0.351.4
Missense OE?0.83 (0.66–1.06)
0≤0.61.4
Synonymous OE?0.75
0≤1.21.6
LoF obs/exp: 7 / 4.6Missense obs/exp: 47 / 56.6Syn Z: 0.92

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRR9 · 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