PRR13

Chr 12

proline rich 13

Also known as: TXR1

NCBI Gene: 54458ENSG00000205352UniProt: Q9NZ81

Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.65
LOEUF
Multiple*
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?
1.65LOEUF
pLI 0.014
Z-score 0.58
OE 0.70 (0.31–1.65)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.41Z-score
OE missense 1.14 (0.95–1.38)
76 obs / 66.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.70 (0.31–1.65)
0≤0.351.4
Missense OE?1.14 (0.95–1.38)
0≤0.61.4
Synonymous OE?0.81
0≤1.21.6
LoF obs/exp: 3 / 4.3Missense obs/exp: 76 / 66.7Syn Z: 0.71

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRR13 · 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