EOGT p.Arg321fs
c.961del · VCV3910368
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 12 of 18 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No allele count reported in gnomAD v4.1 (AN 1,532,508). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- EOGT
- Protein
- p.Arg321fs
- Coding
- c.961del
- MANE Select
- NM_001278689
- Type
- Deletion
- Location
- chr3:68988541 (GRCh38)
- Gene constraint
- LOEUF 1.121 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.71
Similar variants
- EOGT p.Gly359fs Pathogenic/Likely pathogenic ★★ same type
- EOGT p.His27fs Pathogenic/Likely pathogenic ★★ same type
- EOGT c.621-14del Likely benign ★★ same type
- EOGT c.924+1del Likely pathogenic ★ same type
- EOGT p.Leu66fs Pathogenic ★ same type
- EOGT c.1152+10del Benign ★ same type
- EOGT c.1152+70_1152+71del Likely benign ★ same type
- EOGT c.1152+71del 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/eogt-p-arg321fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown