Is CD36 p.Asp282Asn (c.844G>A) pathogenic?

CD36 p.Asp282Asn (c.844G>A) is classified Likely benign in CD36 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2024-07-08). AlphaMissense: likely benign (0.0753); Rare (popmax 0.204%, afr); Associated with CD36-related disorder.

What condition is associated with CD36 p.Asp282Asn (c.844G>A)?

CD36 p.Asp282Asn (c.844G>A) is associated with CD36-related disorder (ClinVar).

How common is CD36 p.Asp282Asn (c.844G>A) in the general population?

CD36 p.Asp282Asn (c.844G>A) is rare (popmax 0.204%, afr) (gnomAD).

What do computational predictors say about CD36 p.Asp282Asn (c.844G>A)?

AlphaMissense predicts likely benign (score 0.0753) — an in-silico prediction, not a clinical call.

CD36 p.Asp282Asn

c.844G>A · VCV3352752

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0753 · ACMG-weighted

gnomAD v4.1

Rare

rare (popmax 0.204%, afr)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

CD36-related disorder

Computational evidence

Protein change
AlphaMissense	0.0753	likely benign
REVEL	0.103	moderately benign-leaning
SaProt	LLR -6.57	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 2.7	GERP 2, phastCons 1
Regional constraint	o/e 1.47	unconstrained · MANE · 27 kb · p 5.1e-29 · regional, not allelic
Overall
CADD	20.3	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

Grpmax group 0.204% African / African-American · 153/75,000 alleles

Filtering AF 0.178% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.168%

Overall 0.0108% 174/1,613,230 alleles · rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.204%	490
Middle Eastern	0.0165%	6,056
Admixed American	0.015%	6,666
Remaining individualsnot grpmax-eligible	0.0096%	10,413
European (non-Finnish)	0.000424%	235,874

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.Asp282Asn
Coding: c.844G>A
MANE Select: NM_001001548
Type: single nucleotide variant
Location: chr7:80671002 (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 282: a disulfide bond; a β-strand

Full CD36 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

CD36-related disorder

Similar variants

CD36 p.Asp282= Conflicting classifications of pathogenicity ★ same residue
CD36 p.Arg292Ile Uncertain significance ★★ ⚠ same condition
CD36 c.1255-1G>C Likely pathogenic ★ same condition
CD36 p.Cys313Ter Likely pathogenic ★ same condition
CD36 c.429+2T>C Conflicting classifications of pathogenicity ★ same condition
CD36 c.609+1G>A Conflicting classifications of pathogenicity ★ same condition
CD36 p.Arg386Trp Conflicting classifications of pathogenicity ★ ⚠ same condition
CD36 p.Leu360Ter Conflicting classifications of pathogenicity ★ 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-asp282asn (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown