S100A7A

Chr 1

S100 calcium binding protein A7A

Also known as: NICE-2, NICE2, S100A15, S100A7L1, S100A7f

NCBI Gene: 338324 ENSG00000184330 UniProt: Q86SG5 OMIM: 617427

Enables identical protein binding activity. Predicted to be involved in endothelial cell migration. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

Enables identical protein binding activity. Predicted to be involved in endothelial cell migration. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.94

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.94LOEUF

pLI 0.003

Z-score -1.02

OE 1.87 (0.63–1.94)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.27Z-score

OE missense 1.47 (1.24–1.76)

84 obs / 57.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.87 (0.63–1.94)

0≤0.351.4

Missense OE?1.47 (1.24–1.76)

0≤0.61.4

Synonymous OE?1.33

0≤1.21.6

LoF obs/exp: 3 / 1.6Missense obs/exp: 84 / 57.0Syn Z: -1.28

Background carrier burden — how many people carry a rare variant somewhere in S100A7A?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 150

170 rare PASS variants

Rare truncating (LoF)

1 in 7,500

17 rare PASS variants

Rare synonymous (reference)

1 in 370

56 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for S100A7A. 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)	~556k	1 in 170	1 in 7,200
South Asian	~43k	1 in 220	1 in 8,600
Remaining (unassigned)	~30k	1 in 120	≈ 1 in 10,000
European (Finnish)	~27k	1 in 510	none seen
Admixed American	~22k	1 in 170	≈ 1 in 22,000
African / African American	~21k	1 in 200	≈ 1 in 9,300
East Asian	~20k	1 in 220	1 in 2,800
Ashkenazi Jewish	~13k	1 in 480	none seen
Middle Eastern	~2,884	1 in 210	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 2 coding exons well covered in gnomAD exomes and genomes.? see exons ↓