ALG12 p.Ile181del
c.538ATC[1] · VCV3364900
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 1.3 | GERP 0.43, phastCons 0.7 |
Variant & gene context
- Gene
- ALG12
- Protein
- p.Ile181del
- Coding
- c.538ATC[1]
- MANE Select
- NM_024105
- Type
- Microsatellite
- Location
- chr22:49910015 (GRCh38)
- Gene constraint
- LOEUF 0.965 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 93.26
Similar variants
- ZBED4 p.Ser181Leu Uncertain significance ★ ⚠ same residue
- ALG12 p.Ile181= Likely benign ★ same residue
- ALG12 p.Cys131del Uncertain significance ★ same type
- ALG12 c.664+16_664+17del Likely benign ★ same type
- ALG12 c.665-17_665-16del 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/alg12-p-ile181del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown