Predicted to enable ATP binding activity. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
GOFmechanismLOEUF 1.08
Clinical SummarySLFNL1
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
100 VUS of 113 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.08LOEUF
pLI 0.000
Z-score 1.34
OE 0.62 (0.371.08)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.60Z-score
OE missense 1.11 (1.001.22)
288 obs / 260.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.62 (0.371.08)
00.351.4
Missense OE?1.11 (1.001.22)
00.61.4
Synonymous OE?0.99
01.21.6
LoF obs/exp: 9 / 14.5Missense obs/exp: 288 / 260.5Syn Z: 0.09

This gene — mechanism propensity

DN
0.6163th %ile
GOF
0.6736th %ile
LOF
0.2970th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

113 submitted variants in ClinVar

Classification Summary

VUS100
Likely Benign6
100
VUS
6
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
99
1
0
100
Likely Benign
0
6
0
0
6
Benign
0
0
0
0
0
Total010510106

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

View in ClinVar →

11 pathogenic / likely-pathogenic (of 16) ClinVar copy-number / structural variants overlap SLFNL1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

SLFNL1 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →