ITGAM p.Ala152Ile
c.454_455delinsAT · VCV3650381
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 12 | GERP 2.3, phastCons 1 |
| Regional constraint | o/e 0.91 | unconstrained · MANE · 72 kb · p 0.00026 · regional, not allelic |
Variant & gene context
- Gene
- ITGAM
- Protein
- p.Ala152Ile
- Coding
- c.454_455delinsAT
- MANE Select
- NM_000632
- Type
- Indel
- Location
- chr16:31270980 (GRCh38)
- Gene constraint
- LOEUF 0.678 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.30 · 31 PDB
- Residue 152
- the vwfa domain; a β-strand
Similar variants
- ITGAM c.2709-15_2709-14delinsGC Uncertain significance ★ same type
- ITGAM c.704+9_704+10delinsTG Uncertain significance ★ same type
- ITGAM p.Ala94Gly Uncertain significance ★ same type
- ITGAM p.Gln101Pro Uncertain significance ★ same type
- ITGAM p.Pro1147Leu Uncertain significance ★ same type
- ITGAM p.Val643Met 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/itgam-p-ala152ile (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown