KLRF1

Chr 12

killer cell lectin like receptor F1

Also known as: CLEC5C, NKp80

NCBI Gene: 51348ENSG00000150045UniProt: Q9NZS2OMIM: 605029

KLRF1, an activating homodimeric C-type lectin-like receptor (CTLR), is expressed on nearly all natural killer (NK) cells and stimulates their cytoxicity and cytokine release (Kuttruff et al., 2009 [PubMed 18922855]).[supplied by OMIM, Oct 2009]

OMIMResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.48
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.48LOEUF
pLI 0.000
Z-score 0.32
OE 0.90 (0.57–1.48)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.46Z-score
OE missense 0.88 (0.74–1.04)
97 obs / 110.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.90 (0.57–1.48)
0≤0.351.4
Missense OE?0.88 (0.74–1.04)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 11 / 12.2Missense obs/exp: 97 / 110.7Syn Z: -0.50

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KLRF1 · 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