CD274 p.Gln66=
c.198A>G · rs145080325 · VCV792122
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.529%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -3.4 | GERP -3.9 |
| Overall | ||
| CADD | 1.111 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.529%
African / African-American · 397/75,058 alleles
Filtering AF
0.486%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.469%
Overall
0.0392%
633/1,614,132 alleles · rare
exomes 409/1,461,798 · genomes 224/152,334 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.529% | 189 |
| South Asian | 0.178% | 562 |
| Remaining individualsnot grpmax-eligible | 0.0544% | 1,839 |
| Middle Eastern | 0.033% | 3,031 |
| Admixed American | 0.0167% | 5,999 |
| European (non-Finnish) | 0.00229% | 43,703 |
| East Asian | 0.00223% | 44,888 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CD274
- Protein
- p.Gln66=
- Coding
- c.198A>G
- MANE Select
- NM_014143
- dbSNP
- rs145080325
- Type
- single nucleotide variant
- Location
- chr9:5457224 (GRCh38)
- Gene constraint
- LOEUF 0.476 · pLI 0.98 (gnomAD)
- Structure
- AlphaFold pLDDT 88.13 · 78 PDB
- Residue 66
- a β-strand; the ig-like v-type domain
Similar variants
- CD274 c.*2635A>G Benign ★★ same type
- CD274 c.*93G>A Benign ★★ same type
- CD274 p.Arg186Ser Uncertain significance ★ ⚠ same type
- CD274 p.Asn183Thr Uncertain significance ★ ⚠ same type
- CD274 p.Asn278His Uncertain significance ★ ⚠ same type
- CD274 p.Glu205Asp Uncertain significance ★ ⚠ same type
- CD274 p.Glu217Lys Uncertain significance ★ ⚠ same type
- CD274 p.Met115Val 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/cd274-p-gln66 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown