ITGA2 p.Gln810fs
c.2427dup · rs1745457945 · VCV931218
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 19 of 30 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.46 | GERP -1.8, phastCons 0.018 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- ITGA2
- Protein
- p.Gln810fs
- Coding
- c.2427dup
- MANE Select
- NM_002203
- dbSNP
- rs1745457945
- Type
- Duplication
- Location
- chr5:53072692 (GRCh38)
- Gene constraint
- LOEUF 0.789 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.80 · 23 PDB
Similar variants
- ITGA2 p.Gln810Arg Benign ★ same residue
- ITGA2 c.1602+15dup Conflicting classifications of pathogenicity ★ same type
- ITGA2 c.*2883_*2893dup Uncertain significance ★ same type
- ITGA2 c.185+287_185+290dup Benign ★ same type
- ITGA2 c.2084-10_2084-8dup Likely benign ★ same type
- ITGA2 c.2084-8dup Likely benign ★ same type
- ITGA2 c.2084-9_2084-8dup 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/itga2-p-gln810fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown