COG2 p.Arg428del
c.1279AGG[1] · VCV4085417
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.6 | GERP -12 |
Variant & gene context
- Gene
- COG2
- Protein
- p.Arg428del
- Coding
- c.1279AGG[1]
- MANE Select
- NM_007357
- Type
- Microsatellite
- Location
- chr1:230685135 (GRCh38)
- Gene constraint
- LOEUF 0.724 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.38
Similar variants
- COG2 p.Arg428Ser Uncertain significance ★ ⚠ same residue
- COG2 c.1167-24TTC[2] 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/cog2-p-arg428del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown