GTF2A1L
Chr 2general transcription factor IIA subunit 1 like
Also known as: ALF
The protein functions as a testis-specific transcription factor that binds DNA with other factors to enable mRNA transcription. This gene is extremely tolerant to loss-of-function variation (very low pLI score), and no established human diseases have been definitively associated with GTF2A1L mutations. Given its testis-specific expression pattern, any potential clinical manifestations would likely involve male reproductive function rather than neurological phenotypes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
61 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 | 11 | 0 | 11 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 36 | 9 | 0 | 45 |
Likely Benign | 0 | 1 | 2 | 0 | 3 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 37 | 24 | 0 | 61 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GTF2A1L · 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