FAM171B
Chr 2family with sequence similarity 171 member B
Also known as: KIAA1946
The FAM171B protein is predicted to localize to cellular membranes and function at synapses. Mutations cause autosomal recessive intellectual disability with seizures and spasticity, typically presenting in early childhood. This gene shows significant constraint against loss-of-function variants (LOEUF 0.408), suggesting intolerance to protein-disrupting mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
131 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 26 | 0 | 26 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 84 | 4 | 0 | 88 |
Likely Benign | 0 | 4 | 0 | 0 | 4 |
Benign | 0 | 2 | 0 | 4 | 6 |
| Total | 0 | 90 | 30 | 4 | 124 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View 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.
3D Protein StructureAlphaFold
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