C1ORF198

Chr 1

chromosome 1 open reading frame 198

The protein encoded by this gene localizes to the cytosol, but its specific molecular function remains unclear. This gene is highly constrained against loss-of-function variants (pLI = 0.0006), suggesting it plays an important biological role, though associated diseases have not yet been definitively established. Further research is needed to determine the clinical significance of variants in this gene.

ResearchSummary from RefSeq
LOEUF 1.02
Clinical SummaryC1ORF198
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
1.02LOEUF
pLI 0.001
Z-score 1.53
OE 0.54 (0.311.02)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.80Z-score
OE missense 0.84 (0.740.95)
162 obs / 193.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.54 (0.311.02)
00.351.4
Missense OE0.84 (0.740.95)
00.61.4
Synonymous OE0.81
01.21.6
LoF obs/exp: 7 / 12.9Missense obs/exp: 162 / 193.3Syn Z: 1.41

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

C1ORF198 · 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

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC