Is CD36 p.Ser468= (c.1404G>A) pathogenic?

CD36 p.Ser468= (c.1404G>A) is classified Conflicting classifications of pathogenicity in CD36 (ClinVar, Conflicting submitters, 3 submitters; last evaluated 2018-08-07). Rare (popmax 0.143%, afr); Associated with platelet-type bleeding disorder 10.

What condition is associated with CD36 p.Ser468= (c.1404G>A)?

CD36 p.Ser468= (c.1404G>A) is associated with platelet-type bleeding disorder 10 (ClinVar).

How common is CD36 p.Ser468= (c.1404G>A) in the general population?

CD36 p.Ser468= (c.1404G>A) is rare (popmax 0.143%, afr) (gnomAD).

CD36 p.Ser468=

c.1404G>A · rs141626483 · VCV731329

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

rare (popmax 0.143%, afr)

Conditions

platelet-type bleeding disorder 10

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.026	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -1.6	GERP -0.47
Overall
CADD	5.931	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.143% African / African-American · 107/74,830 alleles

Filtering AF 0.121% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.113%

Overall 0.0132% 213/1,610,480 alleles · rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.143%	699
Admixed American	0.0318%	3,149
East Asian	0.0224%	4,465
Finnishnot grpmax-eligible	0.0172%	5,806
Remaining individualsnot grpmax-eligible	0.0112%	8,907
South Asian	0.0066%	15,159
European (non-Finnish)	0.0045%	22,217

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.Ser468=
Coding: c.1404G>A
MANE Select: NM_001001548
dbSNP: rs141626483
Type: single nucleotide variant
Location: chr7:80674132 (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 468: the 'interaction with ptk2, pxn and lyn' region

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

Disease context

platelet-type bleeding disorder 10 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

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-ser468 (accessed [today's date]).

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