Is CD36 p.Arg386Trp (c.1156C>T) pathogenic?

CD36 p.Arg386Trp (c.1156C>T) is classified Conflicting classifications of pathogenicity in CD36 (ClinVar, Conflicting submitters, 7 submitters; last evaluated 2026-05-26). AlphaMissense: likely pathogenic (0.938); Rare (popmax 0.581%, mid); Associated with CD36-related disorder.

What condition is associated with CD36 p.Arg386Trp (c.1156C>T)?

CD36 p.Arg386Trp (c.1156C>T) is associated with CD36-related disorder, platelet-type bleeding disorder 10 (ClinVar).

How common is CD36 p.Arg386Trp (c.1156C>T) in the general population?

CD36 p.Arg386Trp (c.1156C>T) is rare (popmax 0.581%, mid) (gnomAD).

What do computational predictors say about CD36 p.Arg386Trp (c.1156C>T)?

AlphaMissense predicts likely pathogenic (score 0.938) — an in-silico prediction, not a clinical call.

CD36 p.Arg386Trp

c.1156C>T · rs148910227 · VCV632510

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 7 submitters

AlphaMissense

likely pathogenic

0.938 · ACMG-weighted

gnomAD v4.1

Rare

rare (popmax 0.581%, mid)

Missense predictors

3/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

CD36-related disorder

Computational evidence

Protein change
AlphaMissense	0.938	likely pathogenic
REVEL	0.902	moderately pathogenic-leaning
SaProt	LLR -15.29	damaging
⇒ AlphaMissense, REVEL and SaProt all call this damaging.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.1	GERP -2.1, phastCons 1
Regional constraint	o/e 1.47	unconstrained · MANE · 27 kb · p 5.1e-29 · regional, not allelic
Overall
CADD	25.2	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 0.581% Middle Eastern · 34/5,854 alleles

Filtering AF 0.427% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.374%

Overall 0.0326% 525/1,610,484 alleles · rare

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.581%	172
East Asian	0.199%	501
South Asian	0.147%	679
African / African-American	0.147%	681
Admixed American	0.0652%	1,533
Remaining individualsnot grpmax-eligible	0.045%	2,224
European (non-Finnish)	0.00773%	12,944

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.Arg386Trp
Coding: c.1156C>T
MANE Select: NM_001001548
dbSNP: rs148910227
Type: single nucleotide variant
Location: chr7:80672800 (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 386: a UniProt-annotated variant site (in); a β-strand

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

Disease context

CD36-related disorder

Also linked: platelet-type bleeding disorder 10

Similar variants

CD36 c.1254+1G>A Likely pathogenic ★★ same condition
CD36 c.430-2A>G Likely pathogenic ★★ same condition
CD36 p.Cys243Ter Pathogenic ★★ same condition
CD36 p.Leu381Ter Pathogenic/Likely pathogenic ★★ same condition
CD36 p.Tyr62Ter Likely pathogenic ★★ same condition
CD36 c.-27C>T Uncertain significance ★★ same condition
CD36 p.Ala427Ser Uncertain significance ★★ ⚠ same condition
CD36 p.Arg292Ile 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-arg386trp (accessed [today's date]).

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