CD4 p.Val360=
c.1080G>A · rs34841304 · VCV3048523
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.411%, afr)
Conditions
1
CD4-related disorder
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 3 | GERP 0.79, phastCons 1 |
| Overall | ||
| CADD | 5.538 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.411%
African / African-American · 308/74,884 alleles
Filtering AF
0.373%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.359%
Overall
0.0244%
391/1,605,604 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.411% | 243 |
| Admixed American | 0.089% | 1,124 |
| Remaining individualsnot grpmax-eligible | 0.0273% | 3,658 |
| European (non-Finnish) | 0.00119% | 83,964 |
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.Val360=
- Coding
- c.1080G>A
- MANE Select
- NM_000616
- dbSNP
- rs34841304
- Type
- single nucleotide variant
- Location
- chr12:6817254 (GRCh38)
- Gene constraint
- LOEUF 0.673 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.35 · 84 PDB
- Residue 360
- a disulfide bond; the ig-like c2-type 3 domain
Disease context
CD4-related disorder
Similar variants
- CD4 p.Leu344= Likely benign same condition
- 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
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-val360 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown