OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
0.93
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.93LOEUF
pLI 0.000
Z-score 1.85
OE 0.61 (0.410.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.67Z-score
OE missense 0.89 (0.800.99)
251 obs / 282.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.61 (0.410.93)
00.351.4
Missense OE?0.89 (0.800.99)
00.61.4
Synonymous OE?0.93
01.21.6
LoF obs/exp: 16 / 26.2Missense obs/exp: 251 / 282.6Syn Z: 0.56

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

KIAA1328 · 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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