RPL22L1

Chr 3

ribosomal protein L22 like 1

NCBI Gene: 200916 ENSG00000163584 UniProt: Q6P5R6

Predicted to enable RNA binding activity. Predicted to be a structural constituent of ribosome. Predicted to be involved in cytoplasmic translation. Predicted to be located in cytoplasm and ribosome. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.56

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.56LOEUF

pLI 0.001

Z-score 0.56

OE 0.76 (0.40–1.56)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.35Z-score

OE missense 1.12 (0.93–1.37)

71 obs / 63.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.76 (0.40–1.56)

0≤0.351.4

Missense OE?1.12 (0.93–1.37)

0≤0.61.4

Synonymous OE?1.22

0≤1.21.6

LoF obs/exp: 5 / 6.5Missense obs/exp: 71 / 63.2Syn Z: -0.79

Background carrier burden — how many people carry a rare variant somewhere in RPL22L1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 390

175 rare PASS variants

Rare truncating (LoF)

1 in 2,900

44 rare PASS variants

Rare synonymous (reference)

1 in 730

65 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RPL22L1. 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 440	1 in 2,700
South Asian	~43k	1 in 320	1 in 4,400
Remaining (unassigned)	~30k	1 in 260	1 in 3,300
European (Finnish)	~27k	1 in 3,300	≈ 1 in 27,000
Admixed American	~22k	1 in 130	1 in 2,700
African / African American	~21k	1 in 250	≈ 1 in 6,000
East Asian	~20k	1 in 480	1 in 2,700
Ashkenazi Jewish	~13k	1 in 1,300	≈ 1 in 13,000
Middle Eastern	~2,884	≈ 1 in 630	≈ 1 in 2,500

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): 3 of 4 coding exons well covered in gnomAD exomes; exon 2 marginal. Genomes: all 4.? see exons ↓