Is CD36 p.His367= (c.1101T>C) pathogenic?

CD36 p.His367= (c.1101T>C) is classified Likely benign in CD36 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2022-01-14). Ultra-rare (popmax 0.0876%, mid); Associated with CD36-related disorder.

What condition is associated with CD36 p.His367= (c.1101T>C)?

CD36 p.His367= (c.1101T>C) is associated with CD36-related disorder (ClinVar).

How common is CD36 p.His367= (c.1101T>C) in the general population?

CD36 p.His367= (c.1101T>C) is ultra-rare (popmax 0.0876%, mid) (gnomAD).

CD36 p.His367=

c.1101T>C · rs141604812 · VCV3061727

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0876%, mid)

Conditions

CD36-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -8.1	GERP -3.9
Overall
CADD	0.428	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0876% Middle Eastern · 5/5,710 alleles

Filtering AF 0.0345% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0224%

Overall 0.00149% 24/1,607,938 alleles · ultra-rare

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.0876%	1,142
Ashkenazi Jewishnot grpmax-eligible	0.0169%	5,903
Remaining individualsnot grpmax-eligible	0.00482%	20,743
East Asian	0.00224%	44,652
European (non-Finnish)	0.000851%	117,555

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.His367=
Coding: c.1101T>C
MANE Select: NM_001001548
dbSNP: rs141604812
Type: single nucleotide variant
Location: chr7:80672016 (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 367: an α-helix

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

Disease context

CD36-related disorder

Similar variants

CD36 p.His367delinsArgThrTyrTer Pathogenic ★ 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-his367 (accessed [today's date]).

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