POLR3A

Chr 10

RNA polymerase III subunit A

Also known as: ADDH, C160, HLD7, RPC1, RPC155, WDRTS, hRPC155

NCBI Gene: 11128ENSG00000148606UniProt: O14802

The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLeukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
UniProtWiedemann-Rautenstrauch syndrome

Clinical highlights

Gene-disease validity (ClinGen)
POLR3A-related disorder · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
30
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.88
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — POLR3A
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
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?
0.88LOEUF
pLI 0.000
Z-score 2.40
OE 0.69 (0.54–0.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.31Z-score
OE missense 0.76 (0.71–0.82)
574 obs / 752.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.69 (0.54–0.88)
0≤0.351.4
Missense OE?0.76 (0.71–0.82)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 47 / 68.4Missense obs/exp: 574 / 752.0Syn Z: 0.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

POLR3A · protein map & ClinVar variants

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

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