Is CD36 p.Pro191Leu (c.572C>T) pathogenic?

CD36 p.Pro191Leu (c.572C>T) is classified Uncertain significance in CD36 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2017-04-27). AlphaMissense: ambiguous (0.4148); Rare (popmax 0.281%, mid); Associated with platelet-type bleeding disorder 10.

What condition is associated with CD36 p.Pro191Leu (c.572C>T)?

CD36 p.Pro191Leu (c.572C>T) is associated with platelet-type bleeding disorder 10 (ClinVar).

How common is CD36 p.Pro191Leu (c.572C>T) in the general population?

CD36 p.Pro191Leu (c.572C>T) is rare (popmax 0.281%, mid) (gnomAD).

What do computational predictors say about CD36 p.Pro191Leu (c.572C>T)?

AlphaMissense predicts ambiguous (score 0.4148) — an in-silico prediction, not a clinical call.

CD36 p.Pro191Leu

c.572C>T · rs143150225 · VCV910696

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

AlphaMissense

ambiguous

0.4148 · ACMG-weighted

gnomAD v4.1

Rare

rare (popmax 0.281%, mid)

Conditions

platelet-type bleeding disorder 10

Computational evidence

Protein change
AlphaMissense	0.4148	ambiguous
REVEL	0.55	indeterminate
SaProt	LLR -14.07	damaging
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 5.9	GERP 0.78, phastCons 1
Regional constraint	o/e 1.47	unconstrained · MANE · 27 kb · p 5.1e-29 · regional, not allelic
Overall
CADD	25.5	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 0.281% Middle Eastern · 17/6,054 alleles

Filtering AF 0.179% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.147%

Overall 0.0297% 480/1,613,646 alleles · rare exomes 439/1,461,462 · genomes 41/152,184 · joint denominator

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.281%	356
East Asian	0.0514%	1,947
Remaining individualsnot grpmax-eligible	0.0384%	2,603
European (non-Finnish)	0.031%	3,223
African / African-American	0.028%	3,571
Admixed American	0.025%	4,000
South Asian	0.0154%	6,505

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.Pro191Leu
Coding: c.572C>T
MANE Select: NM_001001548
dbSNP: rs143150225
Type: single nucleotide variant
Location: chr7:80663132 (GRCh38)
Gene constraint: LOEUF 1.953 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 94.14 · 1 PDB

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 p.Pro191= Conflicting classifications of pathogenicity ★ same residue
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

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-pro191leu (accessed [today's date]).

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