RPL24

Chr 3

ribosomal protein L24

Also known as: HEL-S-310, L24, eL24

NCBI Gene: 6152 ENSG00000114391 UniProt: P83731

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24E family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as ribosomal protein L30 because the encoded protein shares amino acid identity with the L30 ribosomal proteins from S. cerevisiae; however, its official name is ribosomal protein L24. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

Research

ResearchGenerating clinical summary…

LOEUF 0.53

Clinical Summary— RPL24

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.64) — some intolerance to loss-of-function variants.

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ClinVar Variants

7 VUS of 18 total submissions

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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.53LOEUF

pLI 0.641

Z-score 2.66

OE 0.17 (0.07–0.53)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.63Z-score

OE missense 0.51 (0.40–0.65)

45 obs / 88.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.17 (0.07–0.53)

0≤0.351.4

Missense OE?0.51 (0.40–0.65)

0≤0.61.4

Synonymous OE?1.30

0≤1.21.6

LoF obs/exp: 2 / 11.9Missense obs/exp: 45 / 88.2Syn Z: -1.27

ClinVar Variant Classifications

18 submitted variants in ClinVar

ClinVar

Classification Summary

VUS7

Likely Benign1

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	7	0	7
Likely Benign	0	1	1
Benign	0	0	0
Total	7	1	8

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

10 pathogenic / likely-pathogenic (of 17) ClinVar copy-number / structural variants overlap RPL24 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →