C16ORF95

Chr 16

chromosome 16 open reading frame 95

ResearchGenerating clinical summary…
LOEUF 1.80
Clinical SummaryC16ORF95
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
6 total variants — no pathogenic classifications of 6 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.80LOEUF
pLI 0.000
Z-score -0.69
OE 1.22 (0.801.80)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.22Z-score
OE missense 1.06 (0.911.23)
125 obs / 118.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.22 (0.801.80)
00.351.4
Missense OE?1.06 (0.911.23)
00.61.4
Synonymous OE?1.02
01.21.6
LoF obs/exp: 14 / 11.5Missense obs/exp: 125 / 118.2Syn Z: -0.09

ClinVar Variant Classifications

6 submitted variants in ClinVar

Classification Summary

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
Likely Pathogenic
0
VUS
0
Likely Benign
0
Benign
0
Total0

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

52 pathogenic / likely-pathogenic (of 69) ClinVar copy-number / structural variants overlap C16ORF95 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

C16ORF95 · 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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