CD4 p.Glu237=
c.711G>A · rs28919569 · VCV742540
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.424%, afr)
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 2.3 | GERP -1.4, phastCons 0.99 |
| Overall | ||
| CADD | 4.082 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.424%
African / African-American · 318/75,034 alleles
Filtering AF
0.385%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.37%
Overall
0.047%
758/1,614,204 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.424% | 236 |
| Middle Eastern | 0.066% | 1,516 |
| Admixed American | 0.0633% | 1,580 |
| Remaining individualsnot grpmax-eligible | 0.0432% | 2,315 |
| European (non-Finnish) | 0.0311% | 3,215 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0101% | 9,869 |
| South Asian | 0.0011% | 91,088 |
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
- CD4
- Protein
- p.Glu237=
- Coding
- c.711G>A
- MANE Select
- NM_000616
- dbSNP
- rs28919569
- Type
- single nucleotide variant
- Location
- chr12:6816159 (GRCh38)
- Gene constraint
- LOEUF 0.673 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.35 · 84 PDB
- Residue 237
- the ig-like c2-type 2 domain
Similar variants
- CD4 p.Ser352Trp Uncertain significance ★★ ⚠ same type
- CD4 p.Thr444Ala Uncertain significance ★★ ⚠ same type
- CD4 c.1346+55T>G Benign ★★ same type
- CD4 c.49+35A>G Benign ★★ same type
- CD4 c.*91C>A Benign ★★ same type
- CD4 c.*92A>G Benign ★★ same type
- CD4 p.Arg265Trp Benign ★★ ⚠ same type
- CD4 p.Arg431Gln Benign/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/cd4-p-glu237 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown