RASL12

Chr 15

RAS like family 12

Also known as: RIS

NCBI Gene: 51285 ENSG00000103710 UniProt: Q9NYN1

Predicted to enable GTPase activity. Predicted to be involved in small GTPase-mediated signal transduction. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.21

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.21LOEUF

pLI 0.001

Z-score 1.11

OE 0.62 (0.34–1.21)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.63Z-score

OE missense 0.86 (0.74–0.99)

132 obs / 154.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.62 (0.34–1.21)

0≤0.351.4

Missense OE?0.86 (0.74–0.99)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 6 / 9.7Missense obs/exp: 132 / 154.1Syn Z: 0.19

Background carrier burden — how many people carry a rare variant somewhere in RASL12?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 140

348 rare PASS variants

Rare truncating (LoF)

1 in 3,300

50 rare PASS variants

Rare synonymous (reference)

1 in 190

180 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RASL12. 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)	~556k	1 in 140	1 in 4,700
South Asian	~43k	1 in 140	1 in 2,200
Remaining (unassigned)	~30k	1 in 91	1 in 3,000
European (Finnish)	~27k	1 in 230	≈ 1 in 17,000
Admixed American	~22k	1 in 130	≈ 1 in 9,700
African / African American	~21k	1 in 95	1 in 2,000
East Asian	~20k	1 in 130	1 in 1,100
Ashkenazi Jewish	~13k	1 in 350	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 110	≈ 1 in 2,000

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): All 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓