TBC1D9
Chr 4TBC1 domain family member 9
Also known as: GRAMD9, MDR1
Clinical highlights
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Missense constrained — critical functional residues
LoF Constraint?
0.49LOEUF
pLI 0.000
Z-score 4.69
OE 0.33 (0.23–0.49)
More LoF-intolerant than ~75% of genes
Missense Constraint?
3.16Z-score
OE missense 0.67 (0.62–0.72)
483 obs / 721.9 exp
Highly missense-constrained (top ~0.1%)
Observed / Expected Ratios?
LoF OE?0.33 (0.23–0.49)
0≤0.351.4
Missense OE?0.67 (0.62–0.72)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 19 / 57.3Missense obs/exp: 483 / 721.9Syn Z: 0.98
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TBC1D9 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools