RPL41

Chr 12

ribosomal protein L41

Also known as: L41, eL41

NCBI Gene: 6171 ENSG00000229117 UniProt: P62945

Enables mRNA 3'-UTR binding activity and mRNA 5'-UTR binding activity. Involved in cytoplasmic translation. Located in endoplasmic reticulum. Part of cytosolic large ribosomal subunit. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.60

LOEUF

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?

1.60LOEUF

pLI 0.184

Z-score 0.90

OE 0.39 (0.14–1.60)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.72Z-score

OE missense 0.42 (0.22–0.88)

5 obs / 12.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.39 (0.14–1.60)

0≤0.351.4

Missense OE?0.42 (0.22–0.88)

0≤0.61.4

Synonymous OE?1.66

0≤1.21.6

LoF obs/exp: 1 / 2.6Missense obs/exp: 5 / 12.0Syn Z: -0.90

Background carrier burden — how many people carry a rare variant somewhere in RPL41?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 17,000

14 rare PASS variants

Rare truncating (LoF)

1 in 19,000

9 rare PASS variants

Rare synonymous (reference)

1 in 22,000

9 rare PASS variants

Rare missense and truncating variants are carried at similar rates in RPL41; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 6 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 20,000	1 in 43,000
South Asian	~43k	≈ 1 in 41,000	1 in 6,800
European (Finnish)	~27k	1 in 5,300	none seen
Admixed American	~22k	≈ 1 in 9,600	none seen
African / African American	~21k	≈ 1 in 16,000	≈ 1 in 10,000
East Asian	~20k	≈ 1 in 9,400	none seen

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 3 coding exons well covered in gnomAD exomes. Genomes: 2 of 3 (exon 2 below).? see exons ↓