RGSL1

Chr 1

regulator of G protein signaling like 1

Also known as: RGSL, RGSL2

NCBI Gene: 353299ENSG00000121446UniProt: A5PLK6

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.71
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?
0.71LOEUF
pLI 0.000
Z-score 3.19
OE 0.52 (0.38–0.71)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.07Z-score
OE missense 0.75 (0.69–0.81)
407 obs / 542.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.52 (0.38–0.71)
0≤0.351.4
Missense OE?0.75 (0.69–0.81)
0≤0.61.4
Synonymous OE?0.85
0≤1.21.6
LoF obs/exp: 26 / 50.4Missense obs/exp: 407 / 542.4Syn Z: 1.60

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RGSL1 · 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