POLR3GL

Chr 1AR

RNA polymerase III subunit GL

Also known as: RPC32HOM, SOFM, flj32422

Predicted to enable chromatin binding activity. Involved in transcription by RNA polymerase III. Located in nucleus. Part of RNA polymerase III complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 1.171 OMIM phenotype
Clinical SummaryPOLR3GL
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.17LOEUF
pLI 0.000
Z-score 1.13
OE 0.67 (0.401.17)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.34Z-score
OE missense 0.91 (0.781.07)
112 obs / 122.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.67 (0.401.17)
00.351.4
Missense OE?0.91 (0.781.07)
00.61.4
Synonymous OE?0.90
01.21.6
LoF obs/exp: 9 / 13.5Missense obs/exp: 112 / 122.6Syn Z: 0.54
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
limitedPOLR3GL-related endosteal hyperostosis and oligodontiaLOFAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.6453th %ile
GOF
0.3590th %ile
LOF
0.4039th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

POLR3GL · 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

No active trials found for this gene.

Search ClinicalTrials.gov →