PRH1

Chr 12

proline rich protein HaeIII subfamily 1

Also known as: Db-s, PA, PIF-S, PRP-1/PRP-2, Pr1/Pr2

NCBI Gene: 5554ENSG00000231887UniProt: P02810

The protein encoded by this gene is a proline-rich salivary glycoprotein that acts as a potent inhibitor of calcium phosphate crystal growth, providing a protective environment for dental enamel. Certain alleles are associated with increased susceptibility to dental caries, primarily affecting dental health rather than causing a defined Mendelian neurological disorder. The gene shows low constraint to loss-of-function variation (pLI = 0.007, LOEUF = 1.36), consistent with its role in dental protection rather than essential developmental functions.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
2
Pubs (1 yr)
41
P/LP submissions
0%
P/LP missense
1.36
LOEUF
—
Mechanism
Clinical Summary— PRH1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
41 unique Pathogenic / Likely Pathogenic· 370 VUS of 481 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.36LOEUF
pLI 0.007
Z-score 0.95
OE 0.60 (0.29–1.36)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.69Z-score
OE missense 0.79 (0.66–0.97)
72 obs / 90.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.60 (0.29–1.36)
0≤0.351.4
Missense OE0.79 (0.66–0.97)
0≤0.61.4
Synonymous OE0.89
0≤1.21.6
LoF obs/exp: 4 / 6.7Missense obs/exp: 72 / 90.6Syn Z: 0.48

ClinVar Variant Classifications

481 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic38
Likely Pathogenic3
VUS370
Likely Benign46
Benign18
38
Pathogenic
3
Likely Pathogenic
370
VUS
46
Likely Benign
18
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
38
0
38
Likely Pathogenic
0
0
3
0
3
VUS
0
364
6
0
370
Likely Benign
0
37
0
9
46
Benign
0
6
2
10
18
Total04074919475

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PRH1 · 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 →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Comparative analysis of paraspinal muscle imbalance between idiopathic scoliosis and congenital scoliosis from the transcriptome aspect
Wang Z et al.·JOR Spine
2024
The potential of a universal influenza virus-like particle vaccine expressing a chimeric cytokine
Nerome K et al.·Life Sci Alliance
2022
Assessment of a Protease-Free Method for Body Fluid Identification in Sexual Assault Evidence by Targeted High-Resolution Mass Spectrometry.
Brown CO et al.·J Proteome Res
2025
Variant Characterization of a Representative Large Pedigree Suggests "Variant Risk Clusters" Convey Varying Predisposition of Risk to Lynch Syndrome
Barbirou M et al.·Cancers (Basel)
2023
Salivary proteomic analysis in asymptomatic and symptomatic SARS-CoV-2 infection: Innate immunity, taste perception and FABP5 proteins make the difference
Aita A et al.·Clin Chim Acta
2022
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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