CD36 p.Ala384fs
c.1150_1152delinsCC · rs2535905306 · VCV2631819
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 12 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.5 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- CD36
- Protein
- p.Ala384fs
- Coding
- c.1150_1152delinsCC
- MANE Select
- NM_001001548
- dbSNP
- rs2535905306
- Type
- Indel
- Location
- chr7:80672794 (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 384
- a β-strand
Disease context
Similar variants
- CD36 p.Ala384= Likely benign same residue
- CD36 p.Asn53fs Likely pathogenic same condition
- CD36 p.Ile410_Ile413del Pathogenic/Likely pathogenic ★★ same condition
- CD36 p.Lys213fs Pathogenic/Likely pathogenic ★★ same condition
- CD36 p.Lys223fs Pathogenic/Likely pathogenic ★★ same condition
- CD36 p.Thr111fs Pathogenic/Likely pathogenic ★★ same condition
- CD36 p.Arg292Ile Uncertain significance ★★ ⚠ same condition
- CD36 p.Ser113fs 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-ala384fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown