C16ORF46

Chr 16

chromosome 16 open reading frame 46

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.63
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.63LOEUF
pLI 0.000
Z-score 0.00
OE 1.00 (0.631.63)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.42Z-score
OE missense 1.28 (1.151.41)
268 obs / 210.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.00 (0.631.63)
00.351.4
Missense OE?1.28 (1.151.41)
00.61.4
Synonymous OE?1.02
01.21.6
LoF obs/exp: 11 / 11.0Missense obs/exp: 268 / 210.2Syn Z: -0.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

C16ORF46 · 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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