ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.31
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.31LOEUF
pLI 0.008
Z-score 1.04
OE 0.57 (0.281.31)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.86Z-score
OE missense 0.76 (0.630.92)
77 obs / 101.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.57 (0.281.31)
00.351.4
Missense OE?0.76 (0.630.92)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 4 / 7.0Missense obs/exp: 77 / 101.3Syn Z: -0.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PLAC8L1 · 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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