SCARF1

Chr 17

scavenger receptor class F member 1

Also known as: SREC, SREC-I, SREC1

NCBI Gene: 8578ENSG00000074660UniProt: Q14162

The protein encoded by this gene is a scavenger receptor that is expressed in endothelial cells. It regulates the uptake of chemically modified low density lipoproteins, including acetylated low density lipoprotein (Ac-LDL), and it may be involved in atherogenesis. This gene is regulated by the transcription factors ZNF444/EZF-2 and SP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]

250
ClinVar variants
86
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— SCARF1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
86 Pathogenic / Likely Pathogenic· 150 VUS of 250 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.73LOEUF
pLI 0.000
Z-score 2.80
OE 0.48 (0.32–0.73)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.14Z-score
OE missense 0.85 (0.78–0.92)
370 obs / 437.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.48 (0.32–0.73)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.85 (0.78–0.92)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.09
0≤1.21.6
LoF obs/exp: 16 / 33.5Missense obs/exp: 370 / 437.0Syn Z: -1.01

ClinVar Variant Classifications

250 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic75
Likely Pathogenic11
VUS150
Likely Benign12
Benign2
75
Pathogenic
11
Likely Pathogenic
150
VUS
12
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
75
0
75
Likely Pathogenic
0
0
11
0
11
VUS
0
130
20
0
150
Likely Benign
0
12
0
0
12
Benign
0
1
0
1
2
Total01431061250

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SCARF1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
SCARF1: a multifaceted, yet largely understudied, scavenger receptor.
Patten DA·Inflamm Res
2018Review
SCARF1-Induced Efferocytosis Plays an Immunomodulatory Role in Humans, and Autoantibodies Targeting SCARF1 Are Produced in Patients with Systemic Lupus Erythematosus.
Jorge AM et al.·J Immunol
2022Cohort
Neutrophil infiltration associated genes on the prognosis and tumor immune microenvironment of lung adenocarcinoma.
Liu R et al.·Front Immunol
2023
Development of an immune-related gene signature applying Ridge method for improving immunotherapy responses and clinical outcomes in lung adenocarcinoma.
Chen Z et al.·PeerJ
2025
Blood Transcriptomic Stratification of Short-term Risk in Contacts of Tuberculosis.
Roe J et al.·Clin Infect Dis
2020
Non-linear interactions between candidate genes of myocardial infarction revealed in mRNA expression profiles.
Hartmann K et al.·BMC Genomics
2016
[Establishment of a prostate cancer prognostic risk model based on the TCGA database and inflammation-related genes].
Zhong RF et al.·Zhonghua Nan Ke Xue
2022Functional
Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.
Migliavacca MP et al.·Am J Med Genet A
2014
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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