MRPL14

Chr 6

mitochondrial ribosomal protein L14

Also known as: L14mt, L32mt, MRP-L14, MRP-L32, RMPL32, RPML32, uL14m

NCBI Gene: 64928ENSG00000180992UniProt: Q6P1L8

This nuclear gene encodes a protein component of the 39S subunit of the mitochondrial ribosome. A pseudogene of this gene is found on chromosome 17. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.78
LOEUF
DN
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?
1.78LOEUF
pLI 0.000
Z-score -0.02
OE 1.01 (0.55–1.78)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.27Z-score
OE missense 0.92 (0.77–1.10)
87 obs / 94.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.01 (0.55–1.78)
0≤0.351.4
Missense OE?0.92 (0.77–1.10)
0≤0.61.4
Synonymous OE?0.82
0≤1.21.6
LoF obs/exp: 6 / 5.9Missense obs/exp: 87 / 94.5Syn Z: 0.86

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MRPL14 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients