EIF2B1 p.Asp121=
c.363T>C · rs2541675671 · VCV2891533
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.409 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -2.3 | GERP -3.2 |
| Overall | ||
| CADD | 2.025 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- EIF2B1
- Protein
- p.Asp121=
- Coding
- c.363T>C
- MANE Select
- NM_001414
- dbSNP
- rs2541675671
- Type
- single nucleotide variant
- Location
- chr12:123630175 (GRCh38)
- Gene constraint
- LOEUF 1.06 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 91.67 · 38 PDB
Similar variants
- EIF2B1 p.Arg147Ter Pathogenic/Likely pathogenic ★★ same type
- EIF2B1 p.Tyr275Cys Pathogenic/Likely pathogenic ★★ same type
- EIF2B1 c.627+3A>G Uncertain significance ★★ same type
- EIF2B1 c.-183C>G Uncertain significance ★★ same type
- EIF2B1 c.*506C>T Uncertain significance ★★ same type
- EIF2B1 p.Ala129Thr Uncertain significance ★★ same type
- EIF2B1 p.Ala144Thr Uncertain significance ★★ ⚠ same type
- EIF2B1 p.Ala260Thr Uncertain significance ★★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/eif2b1-p-asp121 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown