PRB1

Chr 12

proline rich protein BstNI subfamily 1

Also known as: PM, PMF, PMS, PRB1L, PRB1M

NCBI Gene: 5542ENSG00000251655UniProt: P04280

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

GeneReviewsResearchGenerating clinical summary…
0
Active trials
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.92
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — PRB1
Authoritative clinical overview · Recommended first read
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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?
1.92LOEUF
pLI 0.000
Z-score -1.31
OE 1.48 (0.94–1.92)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-4.03Z-score
OE missense 2.12 (1.80–2.00)
216 obs / 101.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.48 (0.94–1.92)
0≤0.351.4
Missense OE?2.12 (1.80–2.00)
0≤0.61.4
Synonymous OE?1.98
0≤1.21.6
LoF obs/exp: 13 / 8.8Missense obs/exp: 216 / 101.7Syn Z: -4.65

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRB1 · 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