CD36 p.Leu285=
c.853C>T · rs780267115 · VCV360763
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.029%, eas)
Conditions
1
platelet-type bleeding disorder 10
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 1.1 | GERP 2, phastCons 0.58 |
| Overall | ||
| CADD | 7.651 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.029%
East Asian · 13/44,810 alleles
Filtering AF
0.0171%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0136%
Overall
0.000806%
13/1,613,254 alleles · ultra-rare
exomes 11/1,461,078 · genomes 2/152,176 · joint denominator
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.Leu285=
- Coding
- c.853C>T
- MANE Select
- NM_001001548
- dbSNP
- rs780267115
- Type
- single nucleotide variant
- Location
- chr7:80671011 (GRCh38)
- Gene constraint
- LOEUF 1.953 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 94.14 · 1 PDB
- Residue 285
- a β-strand
Similar variants
- CD36 c.1254+1G>A Likely pathogenic ★★ same condition
- CD36 c.430-2A>G Likely pathogenic ★★ same condition
- CD36 p.Cys243Ter Pathogenic ★★ same condition
- CD36 p.Leu381Ter Pathogenic/Likely pathogenic ★★ same condition
- CD36 p.Tyr62Ter Likely pathogenic ★★ same condition
- CD36 c.-27C>T Uncertain significance ★★ same condition
- CD36 p.Ala427Ser Uncertain significance ★★ ⚠ same condition
- CD36 p.Arg292Ile 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/cd36-p-leu285 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown