RPP30

Chr 10

ribonuclease P/MRP subunit p30

Also known as: TSG15

NCBI Gene: 10556ENSG00000148688UniProt: P78346

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

ResearchGenerating clinical summary…
1
Active trials
17
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.11
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?
1.11LOEUF
pLI 0.000
Z-score 1.19
OE 0.71 (0.47–1.11)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.76Z-score
OE missense 1.17 (1.04–1.32)
188 obs / 160.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.71 (0.47–1.11)
0≤0.351.4
Missense OE?1.17 (1.04–1.32)
0≤0.61.4
Synonymous OE?1.18
0≤1.21.6
LoF obs/exp: 14 / 19.7Missense obs/exp: 188 / 160.9Syn Z: -1.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RPP30 · protein map & ClinVar variants

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

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