CD36 p.Leu405=
c.1215G>A · rs201929460 · VCV1285180
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.256%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.30 | acceptor loss, 15 bp away · masked 0 · deltas |
|---|---|---|
| Pangolin | Δ0.35 | loss · gain 0.00 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 0.79 | GERP -1.4, phastCons 1 |
| Overall | ||
| CADD | 2.056 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.256%
Middle Eastern · 15/5,864 alleles
Filtering AF
0.158%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.127%
Overall
0.00964%
149/1,545,026 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.256% | 391 |
| Remaining individualsnot grpmax-eligible | 0.025% | 4,007 |
| Admixed American | 0.0151% | 6,628 |
| European (non-Finnish) | 0.0093% | 10,755 |
| African / African-American | 0.00679% | 14,719 |
| South Asian | 0.00112% | 89,270 |
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
- CD36
- Protein
- p.Leu405=
- Coding
- c.1215G>A
- MANE Select
- NM_001001548
- dbSNP
- rs201929460
- Type
- single nucleotide variant
- Location
- chr7:80673370 (GRCh38)
- Gene constraint
- LOEUF 1.953 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 94.14 · 1 PDB
Similar variants
- CD36 c.1254+1G>A Likely pathogenic ★★ same type
- CD36 c.430-2A>G Likely pathogenic ★★ same type
- CD36 p.Cys243Ter Pathogenic ★★ same type
- CD36 p.Leu381Ter Pathogenic/Likely pathogenic ★★ same type
- CD36 p.Tyr62Ter Likely pathogenic ★★ same type
- CD36 c.-27C>T Uncertain significance ★★ same type
- CD36 p.Ala427Ser Uncertain significance ★★ ⚠ same type
- CD36 p.Arg292Ile 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/cd36-p-leu405 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown