RPS27L

Chr 15

ribosomal protein S27 like

NCBI Gene: 51065 ENSG00000185088 UniProt: Q71UM5 OMIM: 612055

This gene encodes a protein sharing 96% amino acid similarity with ribosomal protein S27, which suggests the encoded protein may be a component of the 40S ribosomal subunit. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.27

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.27LOEUF

pLI 0.100

Z-score 1.21

OE 0.41 (0.17–1.27)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.79Z-score

OE missense 0.65 (0.48–0.90)

27 obs / 41.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.41 (0.17–1.27)

0≤0.351.4

Missense OE?0.65 (0.48–0.90)

0≤0.61.4

Synonymous OE?0.66

0≤1.21.6

LoF obs/exp: 2 / 4.9Missense obs/exp: 27 / 41.3Syn Z: 0.98

Background carrier burden — how many people carry a rare variant somewhere in RPS27L?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 1,100

143 rare PASS variants

Rare truncating (LoF)

1 in 2,700

39 rare PASS variants

Rare synonymous (reference)

1 in 840

41 rare PASS variants

Rare missense and truncating variants are carried at similar rates in RPS27L; 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 · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 1,700	1 in 3,200
South Asian	~43k	1 in 1,800	1 in 2,000
Remaining (unassigned)	~30k	1 in 600	1 in 1,700
European (Finnish)	~27k	1 in 830	1 in 1,100
Admixed American	~22k	1 in 400	1 in 2,200
African / African American	~21k	1 in 1,100	1 in 1,300
East Asian	~20k	1 in 570	≈ 1 in 6,600
Ashkenazi Jewish	~13k	1 in 1,600	none seen
Middle Eastern	~2,884	≈ 1 in 2,800	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): 2 of 4 coding exons well covered in gnomAD exomes; exons 2, 3 marginal. Genomes: all 4.? see exons ↓