CD36 p.Pro351fs
c.1047_1051dup · rs772709798 · VCV3036442
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 11 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.6 | GERP 0.39, phastCons 1 |
| Overall | ||
| CADD | 33.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.117% | 853 |
| Remaining individualsnot grpmax-eligible | 0.00802% | 12,467 |
| European (non-Finnish) | 0.00331% | 30,192 |
| South Asian | 0.0011% | 90,980 |
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.Pro351fs
- Coding
- c.1047_1051dup
- MANE Select
- NM_001001548
- dbSNP
- rs772709798
- Type
- Duplication
- Location
- chr7:80671960 (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 351
- an α-helix
Similar variants
- CD36 p.Pro351Leu Uncertain significance ★ ⚠ same residue
- CD36 p.Gln262fs Pathogenic/Likely pathogenic ★★ same type
- CD36 p.Ile317fs Likely pathogenic ★★ same type
- CD36 p.Val411fs Likely pathogenic ★★ same type
- CD36 c.1126-2_1149dup Likely pathogenic ★ same type
- CD36 p.Ala225fs Pathogenic ★ same type
- CD36 p.Glu445fs Pathogenic ★ same type
- CD36 p.His367delinsArgThrTyrTer 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-pro351fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown