Is CD36 p.Ile148Asn (c.443T>A) pathogenic?

CD36 p.Ile148Asn (c.443T>A) is classified Uncertain significance in CD36 (ClinVar, Single submitter, 2 submitters; last evaluated 2022-01-20). AlphaMissense: likely benign (0.3365); Rare (popmax 0.113%, sas).

How common is CD36 p.Ile148Asn (c.443T>A) in the general population?

CD36 p.Ile148Asn (c.443T>A) is rare (popmax 0.113%, sas) (gnomAD).

What do computational predictors say about CD36 p.Ile148Asn (c.443T>A)?

AlphaMissense predicts likely benign (score 0.3365) — an in-silico prediction, not a clinical call.

CD36 p.Ile148Asn

c.443T>A · rs573439520 · VCV1708388

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

AlphaMissense

likely benign

0.3365 · ACMG-weighted

gnomAD v4.1

Rare

rare (popmax 0.113%, sas)

Missense predictors

0/2 damaging

AlphaMissense, SaProt · REVEL no call

Computational evidence

Protein change
AlphaMissense	0.3365	likely benign
REVEL	0.338	indeterminate
SaProt	LLR -5.79	tolerated
⇒ AlphaMissense and SaProt both call this tolerated; REVEL makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 5.1	GERP 0.36, phastCons 0.93
Regional constraint	o/e 1.47	unconstrained · MANE · 27 kb · p 5.1e-29 · regional, not allelic
Overall
CADD	21.2	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.113% South Asian · 103/91,042 alleles

Filtering AF 0.0954% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0888%

Overall 0.00701% 113/1,612,484 alleles · rare exomes 108/1,460,160 · genomes 5/152,324 · joint denominator

Ancestry group	Frequency	1 in
South Asiangrpmax	0.113%	884
Remaining individualsnot grpmax-eligible	0.0144%	6,936
Admixed American	0.00167%	60,020

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.Ile148Asn
Coding: c.443T>A
MANE Select: NM_001001548
dbSNP: rs573439520
Type: single nucleotide variant
Location: chr7:80663003 (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 148: an α-helix

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

Similar variants

CD36 p.Ile148Val Uncertain significance ★ ⚠ 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-ile148asn (accessed [today's date]).

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