ITGA2 p.Val803=
c.2409C>A · VCV4970353
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.6 | GERP -4.9, phastCons 0.97 |
| Overall | ||
| CADD | 0.681 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ITGA2
- Protein
- p.Val803=
- Coding
- c.2409C>A
- MANE Select
- NM_002203
- Type
- single nucleotide variant
- Location
- chr5:53072675 (GRCh38)
- Gene constraint
- LOEUF 0.789 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.80 · 23 PDB
Similar variants
- ITGA2 p.Asn57Lys Uncertain significance ★★ ⚠ same type
- ITGA2 p.Gln690Arg Uncertain significance ★★ ⚠ same type
- ITGA2 p.Gly201Asp Uncertain significance ★★ ⚠ same type
- ITGA2 p.Gly205Val Uncertain significance ★★ ⚠ same type
- ITGA2 c.1173+172A>T Benign ★★ same type
- ITGA2 c.1312+12T>C Benign/Likely benign ★★ same type
- ITGA2 c.1313-30T>G Benign ★★ same type
- ITGA2 c.1313-39T>C 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-val803 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown