PRR18

Chr 6

proline rich 18

The PRR18 protein function is not well characterized in the provided data. Based on the gene constraint metrics showing moderate tolerance to loss-of-function variants (pLI: 0.46, LOEUF: 1.52), this gene does not appear to be under strong selective pressure. No specific disease associations or inheritance patterns are documented in the available information.

Research

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.52

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.52LOEUF

pLI 0.461

Z-score 1.17

OE 0.00 (0.00–1.52)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.89Z-score

OE missense 0.71 (0.57–0.89)

53 obs / 74.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.00 (0.00–1.52)

0≤0.351.4

Missense OE?0.71 (0.57–0.89)

0≤0.61.4

Synonymous OE?0.78

0≤1.21.6

LoF obs/exp: 0 / 1.6Missense obs/exp: 53 / 74.6Syn Z: 1.06

Background carrier burden — how many people carry a rare variant somewhere in PRR18?

gnomAD v4 · ~714k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 97

574 rare PASS variants

Rare truncating (LoF)

1 in 1,000

81 rare PASS variants

Rare synonymous (reference)

1 in 140

255 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PRR18. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~552k	1 in 92	1 in 1,400
South Asian	~42k	1 in 90	1 in 660
Remaining (unassigned)	~30k	1 in 68	1 in 860
European (Finnish)	~25k	1 in 230	1 in 1,600
Admixed American	~21k	1 in 110	1 in 1,600
African / African American	~21k	1 in 74	1 in 2,000
East Asian	~19k	1 in 76	1 in 420
Ashkenazi Jewish	~13k	1 in 450	≈ 1 in 3,600
Middle Eastern	~2,827	1 in 140	≈ 1 in 820

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): 0 of 1 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 1.? see exons ↓