SPRR4

Chr 1

small proline rich protein 4

NCBI Gene: 163778 ENSG00000184148 UniProt: Q96PI1 OMIM: 616363

Predicted to be involved in keratinization. Located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

Predicted to be involved in keratinization. Located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.77

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.77LOEUF

pLI 0.039

Z-score 0.44

OE 0.71 (0.28–1.77)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.11Z-score

OE missense 1.50 (1.21–1.83)

59 obs / 39.5 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.71 (0.28–1.77)

0≤0.351.4

Missense OE?1.50 (1.21–1.83)

0≤0.61.4

Synonymous OE?0.51

0≤1.21.6

LoF obs/exp: 2 / 2.8Missense obs/exp: 59 / 39.5Syn Z: 1.51

Background carrier burden — how many people carry a rare variant somewhere in SPRR4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 710

110 rare PASS variants

Rare truncating (LoF)

1 in 1,400

27 rare PASS variants

Rare synonymous (reference)

1 in 2,700

30 rare PASS variants

Rare missense and truncating variants are carried at similar rates in SPRR4; this gene does not show strong loss-of-function constraint by this measure. 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)	~556k	1 in 450	1 in 2,900
South Asian	~43k	1 in 160	1 in 7,200
Remaining (unassigned)	~30k	1 in 770	1 in 940
European (Finnish)	~27k	≈ 1 in 13,000	none seen
Admixed American	~22k	1 in 610	1 in 1,300
African / African American	~21k	1 in 600	1 in 710
East Asian	~20k	1 in 680	1 in 2,100
Middle Eastern	~2,884	1 in 410	≈ 1 in 1,400

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 ↓