RPP40

Chr 6

ribonuclease P/MRP subunit p40

Also known as: RNASEP1, bA428J1.3

NCBI Gene: 10799ENSG00000124787UniProt: O75818

Enables ribonuclease P RNA binding activity. Contributes to ribonuclease P activity. Involved in tRNA 5'-leader removal. Part of multimeric ribonuclease P complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.90
LOEUF
—
Mechanism
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?
0.90LOEUF
pLI 0.000
Z-score 1.87
OE 0.52 (0.31–0.90)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.24Z-score
OE missense 0.95 (0.84–1.08)
180 obs / 189.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.31–0.90)
0≤0.351.4
Missense OE?0.95 (0.84–1.08)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 9 / 17.4Missense obs/exp: 180 / 189.3Syn Z: -0.25

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RPP40 · 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