SPRR1A

Chr 1

small proline rich protein 1A

Also known as: SPRK

NCBI Gene: 6698ENSG00000169474UniProt: P35321OMIM: 182265

A structural constituent of skin epidermis. Involved in keratinocyte differentiation and peptide cross-linking. Located in cornified envelope. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
19
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.87
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.87LOEUF
pLI 0.006
Z-score -0.06
OE 1.04 (0.44–1.87)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.69Z-score
OE missense 1.29 (1.04–1.60)
59 obs / 45.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.04 (0.44–1.87)
0≤0.351.4
Missense OE?1.29 (1.04–1.60)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 3 / 2.9Missense obs/exp: 59 / 45.8Syn Z: -0.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SPRR1A · 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