EFTUD2 p.Phe718fs
c.2153del · VCV4088089
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 22 of 28 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.1 | GERP -0.46, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- EFTUD2
- Protein
- p.Phe718fs
- Coding
- c.2153del
- MANE Select
- NM_004247
- Type
- Deletion
- Location
- chr17:44854662 (GRCh38)
- Gene constraint
- LOEUF 0.145 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 89.94 · 72 PDB
- Residue 718
- an α-helix
Similar variants
- EFTUD2 c.2562-2_2562-1del Pathogenic/Likely pathogenic ★★ same type
- EFTUD2 c.2562-2del Pathogenic ★★ same type
- EFTUD2 c.702+1del Pathogenic ★★ same type
- EFTUD2 p.Leu190fs Pathogenic/Likely pathogenic ★★ same type
- EFTUD2 p.Leu474fs Pathogenic ★★ same type
- EFTUD2 p.Met433fs Pathogenic ★★ same type
- EFTUD2 c.1058+3_1058+7del Benign/Likely benign ★★ same type
- EFTUD2 c.1150-13del Likely benign ★★ 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/eftud2-p-phe718fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown