PRR14L

Chr 22

proline rich 14 like

Also known as: C22orf30

NCBI Gene: 253143ENSG00000183530UniProt: Q5THK1OMIM: 621035

The PRR14L protein functions in nuclear organization and heterochromatin formation. Mutations cause an autosomal recessive neurodevelopmental disorder characterized by intellectual disability, developmental delay, and seizures. This gene is highly constrained against loss-of-function variants, indicating that complete loss of PRR14L function is typically incompatible with normal development.

OMIMResearch
LOFmechanismLOEUF 0.28
Clinical Summary— PRR14L
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.28LOEUF
pLI 0.997
Z-score 6.25
OE 0.17 (0.10–0.28)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.47Z-score
OE missense 0.79 (0.75–0.84)
866 obs / 1095.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.17 (0.10–0.28)
0≤0.351.4
Missense OE0.79 (0.75–0.84)
0≤0.61.4
Synonymous OE0.80
0≤1.21.6
LoF obs/exp: 11 / 65.6Missense obs/exp: 866 / 1095.9Syn Z: 3.22
DN
0.3793th %ile
GOF
0.4874th %ile
LOF
0.74top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.28

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRR14L · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
The scaffold protein PRR14L links the PP2A-TACC3 axis to mitotic fidelity and sensitivity to MPS1 inhibition
Liu AZ et al.·bioRxiv
2025
Next-Generation Sequencing Analysis of 3 Uterine Adenosarcomas with Heterogeneously Differentiated Genomic Mutations
Li Y et al.·Int J Anal Chem
2023
Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy
Trizuljak J et al.·Mol Syndromol
2023
Longitudinal genomic analyses of automatically-recorded vaginal temperature in lactating sows under heat stress conditions based on random regression models
Wen H et al.·Genet Sel Evol
2023Natural history
Genetic enhancers of partial PLK1 inhibition reveal hypersensitivity to kinetochore perturbations
Normandin K et al.·PLoS Genet
2023
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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