PRRT1

Chr 6

proline rich transmembrane protein 1

Also known as: C6orf31, DSPD1, IFITMD7, NG5, SynDIG4

NCBI Gene: 80863ENSG00000204314UniProt: Q99946

Enables identical protein binding activity. Predicted to be involved in several processes, including long-term synaptic depression; protein localization to cell surface; and regulation of AMPA receptor activity. Predicted to act upstream of or within intracellular protein localization; learning or memory; and long-term synaptic potentiation. Predicted to be located in plasma membrane and synaptic vesicle membrane. Predicted to be active in glutamatergic synapse and postsynaptic density membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating 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
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.77
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

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.77LOEUF
pLI 0.298
Z-score 2.00
OE 0.25 (0.10–0.77)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
3.03Z-score
OE missense 0.35 (0.28–0.43)
59 obs / 170.1 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.25 (0.10–0.77)
0≤0.351.4
Missense OE?0.35 (0.28–0.43)
0≤0.61.4
Synonymous OE?0.51
0≤1.21.6
LoF obs/exp: 2 / 8.2Missense obs/exp: 59 / 170.1Syn Z: 3.47

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRRT1 · 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