Is CD36 p.Gln262Pro (c.785A>C) pathogenic?

CD36 p.Gln262Pro (c.785A>C) is classified Uncertain significance in CD36 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-01-09). AlphaMissense: ambiguous (0.3659); Very rare (popmax 6.85e-05%).

How common is CD36 p.Gln262Pro (c.785A>C) in the general population?

CD36 p.Gln262Pro (c.785A>C) is very rare (popmax 6.85e-05%) (gnomAD).

What do computational predictors say about CD36 p.Gln262Pro (c.785A>C)?

AlphaMissense predicts ambiguous (score 0.3659) — an in-silico prediction, not a clinical call.

CD36 p.Gln262Pro

c.785A>C · rs761732281 · VCV3140572

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.3659 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 6.85e-05%)

Missense predictors

1/2 damaging

REVEL, SaProt · AlphaMissense no call

Computational evidence

Protein change
AlphaMissense	0.3659	ambiguous
REVEL	0.204	benign-leaning
SaProt	LLR -13.99	damaging
⇒ SaProt calls this damaging; REVEL does not; AlphaMissense makes no call.
Splicing
SpliceAI	Δ0.32	donor gain · deltas
Constraint at this position
Conservation	phyloP -0.5	GERP -0.57
Regional constraint	o/e 1.47	unconstrained · MANE · 27 kb · p 5.1e-29 · regional, not allelic
Overall
CADD	17.93	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 6.85e-05%

Overall 6.85e-05% 1/1,460,092 alleles · very rare

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.Gln262Pro
Coding: c.785A>C
MANE Select: NM_001001548
dbSNP: rs761732281
Type: single nucleotide variant
Location: chr7:80669989 (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 262: a disulfide bond

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

Similar variants

CD36 p.Gln262fs Pathogenic/Likely pathogenic ★★ same residue
CD36 c.1254+1G>A Likely pathogenic ★★ same type
CD36 c.430-2A>G Likely pathogenic ★★ same type
CD36 p.Cys243Ter Pathogenic ★★ same type
CD36 p.Leu381Ter Pathogenic/Likely pathogenic ★★ same type
CD36 p.Tyr62Ter Likely pathogenic ★★ same type
CD36 c.-27C>T Uncertain significance ★★ same type
CD36 p.Ala427Ser Uncertain significance ★★ ⚠ same type

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-gln262pro (accessed [today's date]).

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