TSTD1

Chr 1

thiosulfate sulfurtransferase like domain containing 1

Also known as: KAT

NCBI Gene: 100131187ENSG00000215845UniProt: Q8NFU3OMIM: 616041

Predicted to enable thiosulfate-thiol sulfurtransferase activity. Predicted to be involved in sulfide oxidation, using sulfide:quinone oxidoreductase. Located in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…

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.
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.98
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.98LOEUF
pLI 0.381
Z-score 1.62
OE 0.21 (0.07–0.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.82Z-score
OE missense 0.73 (0.59–0.92)
54 obs / 73.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.21 (0.07–0.98)
0≤0.351.4
Missense OE?0.73 (0.59–0.92)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 1 / 4.8Missense obs/exp: 54 / 73.9Syn Z: 0.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TSTD1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients