EEF1B2 p.Pro81=
c.243T>G · rs754727138 · VCV2651838
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00398%, nfe)
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 0.65 | GERP 1.1, phastCons 1 |
| Overall | ||
| CADD | 10.26 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00398%
European (non-Finnish) · 47/1,180,028 alleles
Filtering AF
0.00307%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00275%
Overall
0.00316%
51/1,614,068 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00398% | 25,107 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,240 |
| Admixed American | 0.00167% | 59,994 |
| South Asian | 0.0011% | 91,090 |
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
- EEF1B2
- Protein
- p.Pro81=
- Coding
- c.243T>G
- MANE Select
- NM_001959
- dbSNP
- rs754727138
- Type
- single nucleotide variant
- Location
- chr2:206161385 (GRCh38)
- Gene constraint
- LOEUF 0.688 · pLI 0.21 (gnomAD)
- Structure
- AlphaFold pLDDT 77.83 · 2 PDB
- Residue 81
- the gst c-terminal domain; a β-strand; the 'disordered' region
Similar variants
- EEF1B2 p.Pro81Ser Uncertain significance ★ ⚠ same residue
- EEF1B2 c.80+1G>C Pathogenic ★ same type
- EEF1B2 p.Ser128Ter Pathogenic ★ same type
- EEF1B2 p.Ala115Thr Uncertain significance ★ ⚠ same type
- EEF1B2 p.Ala167Thr Uncertain significance ★ ⚠ same type
- EEF1B2 p.Asp102Asn Uncertain significance ★ ⚠ same type
- EEF1B2 p.Asp108Glu Uncertain significance ★ ⚠ same type
- EEF1B2 p.Asp201Glu 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/eef1b2-p-pro81 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown