CD36 p.Gly287Glu
c.860G>A · VCV4222878
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
likely benign
0.2518 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
1/3 damaging
AlphaMissense, REVEL, SaProt
Computational evidence
| Protein change | ||
| AlphaMissense | 0.2518 | likely benign |
|---|---|---|
| REVEL | 0.845 | moderately pathogenic-leaning |
| SaProt | LLR -9.55 | tolerated |
| ⇒ REVEL calls this damaging; AlphaMissense and SaProt do not. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>T here scores Δ0.31 · evaluated, not missing |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2, phastCons 1 |
| Regional constraint | o/e 1.47 | unconstrained · MANE · 27 kb · p 5.1e-29 · regional, not allelic |
| Overall | ||
| CADD | 26.0 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CD36
- Protein
- p.Gly287Glu
- Coding
- c.860G>A
- MANE Select
- NM_001001548
- Type
- single nucleotide variant
- Location
- chr7:80671018 (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 287
- a disulfide bond
Similar variants
- CD36 p.Gly287fs Uncertain significance ★ same residue
- 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
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-gly287glu (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown