MLST8
Chr 16MTOR associated protein MLST8
Also known as: GBL, GbetaL, LST8, POP3, WAT1
MLST8 encodes a subunit of both mTORC1 and mTORC2 complexes that regulates cell growth, survival, and cytoskeletal organization in response to nutrient and hormonal signals by enhancing mTOR kinase activity. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability, seizures, and growth abnormalities. The gene shows low constraint to loss-of-function variants (pLI = 0.008), consistent with recessive inheritance patterns.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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 | 0 | 34 | 0 | 34 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 51 | 16 | 0 | 67 |
Likely Benign | 0 | 0 | 0 | 3 | 3 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 51 | 52 | 3 | 106 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MLST8 · 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
External Resources
Links to major genomics databases and tools