CD46 p.Arg82Val
c.244_245delinsGT · VCV3729432
Uncertain significance
Single submitter
Classification
Uncertain significance
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 -15 | GERP -3.1 |
| Regional constraint | o/e 0.88 | unconstrained · MANE · 38 kb · p 0.012 · regional, not allelic |
| Region caveats | ||
| Repeat context | seg dup | · reads may not map uniquely · confidence, not pathogenicity |
Variant & gene context
- Gene
- CD46
- Protein
- p.Arg82Val
- Coding
- c.244_245delinsGT
- MANE Select
- NM_172351
- Type
- Indel
- Location
- chr1:207757160 (GRCh38)
- Gene constraint
- LOEUF 0.763 · pLI 0.04 (gnomAD)
- Structure
- AlphaFold pLDDT 82.38 · 7 PDB
- Residue 82
- a disulfide bond; the sushi 1 domain
Similar variants
- CD46 p.Arg82Gln Uncertain significance ★★ ⚠ same residue
- CD46 p.Arg82Trp Uncertain significance ★★ ⚠ same residue
- CD46 c.476-6_476-5delinsG Uncertain significance ★ same type
- CD46 p.Ile71Val Uncertain significance ★ same type
- CD46 p.Val187Leu 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/cd46-p-arg82val (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown