EIF2B1
Chr 12AReukaryotic translation initiation factor 2B subunit alpha
Also known as: EIF2B, EIF2BA, EIF2Balpha, VWM1
The protein is a subunit of eukaryotic translation initiation factor 2B, which functions as a GTP exchange factor for eukaryotic initiation factor 2 and regulates protein synthesis. Mutations cause leukoencephalopathy with vanishing white matter, inherited in an autosomal recessive pattern, with some patients also developing ovarian failure. Disease mutations can cause pathogenicity through dominant-negative effects that disrupt the essential regulatory function of the EIF2B complex.
Definitive — sufficient evidence for diagnostic panels
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EIF2B1 · 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