FAM171B
Chr 2family with sequence similarity 171 member B
LOEUF 0.41
Clinical Summary— FAM171B
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.22) despite low pLI — interpret in context.
Some data sources returned errors (1)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Moderate LoF intolerance
LoF Constraint?
0.41LOEUF
pLI 0.485
Z-score 4.12
OE 0.22 (0.12–0.41)
More LoF-intolerant than ~75% of genes
Missense Constraint?
1.51Z-score
OE missense 0.80 (0.73–0.87)
344 obs / 432.1 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.22 (0.12–0.41)
0≤0.351.4
Missense OE?0.80 (0.73–0.87)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 7 / 32.3Missense obs/exp: 344 / 432.1Syn Z: 0.40
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FAM171B · 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools