CD36 p.Cys313Tyr
c.938G>A · VCV4650619
Computational evidence
| Protein change | ||
| AlphaMissense | 0.9928 | likely pathogenic · top 1% in CD36 |
|---|---|---|
| REVEL | 0.921 | moderately pathogenic-leaning |
| SaProt | LLR -13.26 | damaging |
| ⇒ AlphaMissense, REVEL and SaProt all call this damaging. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>C here scores Δ0.31 · evaluated, not missing |
| Constraint at this position | ||
| Conservation | phyloP 9.9 | GERP 2, phastCons 1 |
| Regional constraint | o/e 1.47 | unconstrained · MANE · 27 kb · p 5.1e-29 · regional, not allelic |
| Overall | ||
| CADD | 28.6 | PHRED · no single calibrated threshold — expert panels disagree |
ClinVar classifies this uncertain; the computational predictors unanimously lean damaging — a triage signal, not a reclassification
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,458 |
| European (non-Finnish)grpmax | 0.000254% | 393,153 |
Remaining individuals shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.
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.Cys313Tyr
- Coding
- c.938G>A
- MANE Select
- NM_001001548
- Type
- single nucleotide variant
- Location
- chr7:80671096 (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 313
- a disulfide bond
Similar variants
- CD36 p.Cys313Ter Likely pathogenic ★ same residue
- CD36 p.Cys313Ser Uncertain significance ★ ⚠ same residue
- CD36 p.Cys313Trp 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
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-cys313tyr (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown