PRR9

Chr 1

proline rich 9

NCBI Gene: 574414 ENSG00000203783 UniProt: Q5T870

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.94

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.94LOEUF

pLI 0.000

Z-score -1.06

OE 1.54 (0.81–1.94)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.45Z-score

OE missense 0.83 (0.66–1.06)

47 obs / 56.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.54 (0.81–1.94)

0≤0.351.4

Missense OE?0.83 (0.66–1.06)

0≤0.61.4

Synonymous OE?0.75

0≤1.21.6

LoF obs/exp: 7 / 4.6Missense obs/exp: 47 / 56.6Syn Z: 0.92

Background carrier burden — how many people carry a rare variant somewhere in PRR9?

gnomAD v4 · ~699k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 590

147 rare PASS variants

Rare truncating (LoF)

1 in 3,200

36 rare PASS variants

Rare synonymous (reference)

1 in 1,700

50 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PRR9. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 8 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~540k	1 in 1,700	1 in 3,600
South Asian	~40k	1 in 600	1 in 1,600
Remaining (unassigned)	~29k	1 in 350	1 in 1,200
European (Finnish)	~24k	≈ 1 in 8,000	≈ 1 in 24,000
African / African American	~21k	1 in 420	1 in 750
East Asian	~18k	1 in 540	≈ 1 in 6,000
Admixed American	~18k	1 in 390	1 in 2,600
Middle Eastern	~2,850	1 in 470	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓