MFSD11
Chr 17major facilitator superfamily domain containing 11
Also known as: ET
The protein is predicted to be located in cellular membranes but its specific function remains unknown. Mutations in MFSD11 have not been definitively associated with any human disease, though the gene shows some intolerance to loss-of-function variants. The predicted mechanism of pathogenicity is dominant-negative, but clinical significance has not been established.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
117 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 | 2 | 12 | 0 | 14 |
Likely Pathogenic | 0 | 1 | 1 | 0 | 2 |
VUS | 0 | 70 | 3 | 0 | 73 |
Likely Benign | 0 | 1 | 2 | 1 | 4 |
Benign | 0 | 0 | 0 | 1 | 1 |
| Total | 0 | 74 | 18 | 2 | 94 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MFSD11 · 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