LONRF1

Chr 8

LON peptidase N-terminal domain and ring finger 1

Also known as: RNF191

Predicted to enable ubiquitin protein ligase activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
0.39
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.39LOEUF
pLI 0.612
Z-score 4.26
OE 0.21 (0.120.39)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.37Z-score
OE missense 0.94 (0.861.03)
303 obs / 321.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.21 (0.120.39)
00.351.4
Missense OE?0.94 (0.861.03)
00.61.4
Synonymous OE?1.20
01.21.6
LoF obs/exp: 7 / 33.6Missense obs/exp: 303 / 321.9Syn Z: -1.70

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

LONRF1 · 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.

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