SLAMF7

Chr 1

SLAM family member 7

Also known as: 19A, CD319, CRACC, CS1

NCBI Gene: 57823ENSG00000026751UniProt: Q9NQ25

Enables identical protein binding activity. Predicted to be involved in T cell activation and immune response. Predicted to act upstream of or within regulation of natural killer cell activation. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

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.
1
Active trials
84
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.71
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.71LOEUF
pLI 0.036
Z-score 2.37
OE 0.34 (0.17–0.71)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.94Z-score
OE missense 0.80 (0.70–0.92)
146 obs / 181.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.34 (0.17–0.71)
0≤0.351.4
Missense OE?0.80 (0.70–0.92)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 5 / 14.9Missense obs/exp: 146 / 181.7Syn Z: -0.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLAMF7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

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