Is CD36 p.Ter473Ser (c.1418A>C) pathogenic?

CD36 p.Ter473Ser (c.1418A>C) is classified Uncertain significance in CD36 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-04-01). Very rare (popmax 0.00527%, nfe).

How common is CD36 p.Ter473Ser (c.1418A>C) in the general population?

CD36 p.Ter473Ser (c.1418A>C) is very rare (popmax 0.00527%, nfe) (gnomAD).

CD36 p.Ter473Ser

c.1418A>C · rs570171917 · VCV2657636

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

stop-loss

predicted LoF

gnomAD v4.1

Rare

very rare (popmax 0.00527%, nfe)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	stop-loss	predicted loss-of-function
Splicing
SpliceAI	<0.2	all four deltas below 0.2 · A>T here scores Δ0.22 · evaluated, not missing
Constraint at this position
Conservation	phyloP 5.3	GERP -0.46, phastCons 1
Overall
CADD	8.996	PHRED · no single calibrated threshold — expert panels disagree

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00527% European (non-Finnish) · 60/1,138,644 alleles

Filtering AF 0.00417% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00375%

Overall 0.00384% 60/1,561,188 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.Ter473Ser
Coding: c.1418A>C
MANE Select: NM_001001548
dbSNP: rs570171917
Type: single nucleotide variant
Location: chr7:80674146 (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

Similar variants

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
CD36 p.Arg292Ile 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-ter473ser (accessed [today's date]).

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