EEF1A2 p.Ala112=
c.336A>G · rs1057522663 · VCV387011
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0011%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -20 | GERP -3.8 |
| Overall | ||
| CADD | 0.257 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0011%
South Asian · 1/91,028 alleles
Overall
6.86e-05%
1/1,456,986 alleles · very rare
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- EEF1A2
- Protein
- p.Ala112=
- Coding
- c.336A>G
- MANE Select
- NM_001958
- dbSNP
- rs1057522663
- Type
- single nucleotide variant
- Location
- chr20:63495090 (GRCh38)
- Gene constraint
- LOEUF 0.314 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 88.70 · 2 PDB
- Residue 112
- the tr-type g domain; a β-strand
Similar variants
- EEF1A2 p.Ala112Thr Conflicting classifications of pathogenicity ★ ⚠ same residue
- EEF1A2 p.Ala112Val Conflicting classifications of pathogenicity ★ ⚠ same residue
- EEF1A2 p.Arg266Gln Likely pathogenic ★★ same type
- EEF1A2 p.Arg266Trp Pathogenic/Likely pathogenic ★★ same type
- EEF1A2 p.Arg423Cys Pathogenic/Likely pathogenic ★★ same type
- EEF1A2 p.Arg69Cys Pathogenic ★★ same type
- EEF1A2 p.Asp252Asn Pathogenic/Likely pathogenic ★★ ⚠ same type
- EEF1A2 p.Asp91Asn Pathogenic ★★ 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/eef1a2-p-ala112 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown