RGSL1

Chr 1

regulator of G protein signaling like 1

Also known as: RGSL, RGSL2

NCBI Gene: 353299 ENSG00000121446 UniProt: A5PLK6 OMIM: 611012

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

OMIM Research

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

OMIM ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.71

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.71LOEUF

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

Background carrier burden — how many people carry a rare variant somewhere in RGSL1?

gnomAD v4 · ~700k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 34

1,374 rare PASS variants

Rare truncating (LoF)

1 in 320

230 rare PASS variants

Rare synonymous (reference)

1 in 120

451 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RGSL1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~540k	1 in 48	1 in 330
South Asian	~40k	1 in 40	1 in 290
Remaining (unassigned)	~29k	1 in 37	1 in 470
European (Finnish)	~25k	1 in 160	1 in 2,700
African / African American	~21k	1 in 40	1 in 310
East Asian	~18k	1 in 46	1 in 320
Admixed American	~18k	1 in 40	1 in 290
Ashkenazi Jewish	~13k	1 in 110	≈ 1 in 4,200
Middle Eastern	~2,852	1 in 31	1 in 350

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 19 of 21 coding exons well covered in gnomAD exomes; exons 2, 10 marginal. Genomes: all 21.? see exons ↓