CD247 p.Gln70Trp
c.208_209inv · VCV12750
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
immunodeficiency 25
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 1.9 | GERP 0.51, phastCons 0.99 |
| Regional constraint | o/e 0.91 | unconstrained · MANE · 87 kb · p 0.18 · regional, not allelic |
Variant & gene context
- Gene
- CD247
- Protein
- p.Gln70Trp
- Coding
- c.208_209inv
- MANE Select
- NM_198053
- Type
- Inversion
- Location
- chr1:167439354 (GRCh38)
- Gene constraint
- LOEUF 0.633 · pLI 0.66 (gnomAD)
- Structure
- AlphaFold pLDDT 62.36 · 38 PDB
- Residue 70
- the itam 1 domain
Disease context
immunodeficiency 25 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy
Similar variants
- CD247 p.Gln70Leu Pathogenic ⚠ same residue
- CD247 p.Gln70Ter Pathogenic same residue
- CD247 p.Gln70Tyr Pathogenic same residue
- CD247 p.Gln101Ter Pathogenic/Likely pathogenic ★★ same condition
- CD247 p.Ile18fs Pathogenic/Likely pathogenic ★★ same condition
- CD247 c.58+6G>T Uncertain significance ★★ same condition
- CD247 p.Ala120Val Uncertain significance ★★ ⚠ same condition
- CD247 p.Ala63Pro Uncertain significance ★★ ⚠ same condition
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/cd247-p-gln70trp (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown