FAM241B

Chr 10

family with sequence similarity 241 member B

ENSG00000171224UniProt: Q96D05

May play a role in lysosome homeostasis

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.57
LOEUF
DN
Mechanism· predicted
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

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.57LOEUF
pLI 0.016
Z-score 0.71
OE 0.64 (0.29–1.57)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.29Z-score
OE missense 0.91 (0.74–1.11)
67 obs / 74.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.29–1.57)
0≤0.351.4
Missense OE?0.91 (0.74–1.11)
0≤0.61.4
Synonymous OE?0.80
0≤1.21.6
LoF obs/exp: 3 / 4.7Missense obs/exp: 67 / 74.0Syn Z: 0.85

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

FAM241B · 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