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 ribosome. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

DNmechanismLOEUF 1.56

Clinical Summary— RPL22L1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

19 VUS of 32 total submissions

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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

This gene — mechanism propensity

0.7034th %ile

GOF

0.3193th %ile

LOF

0.3842th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

32 submitted variants in ClinVar

ClinVar

Classification Summary

VUS19

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	19	19
Likely Benign	0	0
Benign	0	0
Total	19	19

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

View in ClinVar →

22 pathogenic / likely-pathogenic (of 23) ClinVar copy-number / structural variants overlap RPL22L1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →