Is CPT1A p.Ser80= (c.240G>A) pathogenic?

CPT1A p.Ser80= (c.240G>A) is classified Benign in CPT1A (ClinVar, Multiple submitters, 6 submitters; last evaluated 2026-02-03). Common (popmax 6.98%, afr) — too common for a highly-penetrant pathogenic allele; Associated with carnitine palmitoyl transferase 1A deficiency.

What condition is associated with CPT1A p.Ser80= (c.240G>A)?

CPT1A p.Ser80= (c.240G>A) is associated with carnitine palmitoyl transferase 1A deficiency (ClinVar).

How is Carnitine palmitoyl transferase 1A deficiency inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

CPT1A p.Ser80=

Q: How common is CPT1A p.Ser80= (c.240G>A) in the general population?

CPT1A p.Ser80= (c.240G>A) is common (popmax 6.98%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.240G>A · rs61731904 · VCV203652

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 6 submitters

gnomAD v4.1

Common

common (popmax 6.98%, afr) — too common for a highly-penetrant pathogenic allele

Conditions

carnitine palmitoyl transferase 1A deficiency

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 -5.1	GERP -3.8
Overall
CADD	3.71	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 6.98% African / African-American · 5,235/75,022 alleles

Filtering AF 6.82% ClinGen BA1/BS1 input FAF95, joint · FAF99 6.76%

Overall 0.365% 5,893/1,614,174 alleles · common

Ancestry group	Frequency	1 in
African / African-Americangrpmax	6.98%	14
Remaining individualsnot grpmax-eligible	0.486%	206
Admixed American	0.42%	238
Middle Eastern	0.165%	606
South Asian	0.0274%	3,643
European (non-Finnish)	0.00551%	18,154
Ashkenazi Jewishnot grpmax-eligible	0.00338%	29,606
East Asian	0.00223%	44,876

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: CPT1A
Protein: p.Ser80=
Coding: c.240G>A
MANE Select: NM_001876
dbSNP: rs61731904
Type: single nucleotide variant
Location: chr11:68812478 (GRCh38)
Gene constraint: LOEUF 0.709 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 92.55 · 1 PDB

Full CPT1A gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

carnitine palmitoyl transferase 1A deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Carnitine palmitoyl transferase 1A deficiency (Orphanet):

Inheritance: Autosomal recessive
Onset: Infancy, Neonatal

Similar variants

CPT1A p.Ser80Leu Uncertain significance ★★ ⚠ same residue
CPT1A c.1163+1G>A Pathogenic/Likely pathogenic ★★ same condition
CPT1A c.1163+2T>C Pathogenic/Likely pathogenic ★★ same condition
CPT1A c.1352+1G>C Likely pathogenic ★★ same condition
CPT1A c.1459-1G>A Likely pathogenic ★★ same condition
CPT1A c.1575+1G>T Likely pathogenic ★★ same condition
CPT1A c.2028+2T>G Likely pathogenic ★★ same condition
CPT1A c.281+1G>A Pathogenic ★★ 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/cpt1a-p-ser80 (accessed [today's date]).

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