AIP p.Glu246del
c.733GAG[1] · rs2495407311 · VCV2735674
Uncertain significance
Multiple submitters
Classification
Uncertain significance
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
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 -6.4 | GERP -3.6 |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. 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
- AIP
- Protein
- p.Glu246del
- Coding
- c.733GAG[1]
- MANE Select
- NM_017900 · reported on NM_003977
- dbSNP
- rs2495407311
- Type
- Microsatellite
- Location
- chr11:67490403 (GRCh38)
- Structure
- AlphaFold pLDDT 70.14 · 81 PDB
Similar variants
- AIP p.Glu246Asp Uncertain significance ★★ ⚠ same residue
- AIP p.Glu246Lys Uncertain significance ★★ ⚠ same residue
- AIP p.Glu246= Likely benign ★★ same residue
- AIP p.Glu246Ter Pathogenic ★ same residue
- AIP p.Asp263del Uncertain significance ★★ same type
- AIP p.Glu84fs Pathogenic ★ same type
- AIP p.Met1del Likely pathogenic ★ same type
- AIP c.279+6_279+9del 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/aip-p-glu246del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown