Is ABAT p.Leu383= (c.1147C>T) pathogenic?

ABAT p.Leu383= (c.1147C>T) is classified Benign in ABAT (ClinVar, Multiple submitters, 5 submitters; last evaluated 2026-02-03). Common (popmax 9.53%, afr) — too common for a highly-penetrant pathogenic allele; Associated with GABA aminotransaminase deficiency.

What condition is associated with ABAT p.Leu383= (c.1147C>T)?

ABAT p.Leu383= (c.1147C>T) is associated with GABA aminotransaminase deficiency (ClinVar).

ABAT p.Leu383=

Q: How common is ABAT p.Leu383= (c.1147C>T) in the general population?

ABAT p.Leu383= (c.1147C>T) is common (popmax 9.53%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

Q: How is Gamma-aminobutyric acid transaminase deficiency inherited?

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

c.1147C>T · rs2229158 · VCV321085

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 5 submitters

gnomAD v4.1

Common

common (popmax 9.53%, afr) — too common for a highly-penetrant pathogenic allele

Conditions

GABA aminotransaminase 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 2.5	GERP -0.39, phastCons 1
Overall
CADD	8.675	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 9.53% African / African-American · 7,152/75,040 alleles

Filtering AF 9.35% ClinGen BA1/BS1 input FAF95, joint · FAF99 9.27%

Overall 0.503% 8,122/1,614,232 alleles · common

Ancestry group	Frequency	1 in
African / African-Americangrpmax	9.53%	10
Admixed American	0.67%	149
Remaining individualsnot grpmax-eligible	0.605%	165
Middle Eastern	0.264%	379
European (non-Finnish)	0.0138%	7,240
South Asian	0.0121%	8,281

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: ABAT
Protein: p.Leu383=
Coding: c.1147C>T
MANE Select: NM_020686
dbSNP: rs2229158
Type: single nucleotide variant
Location: chr16:8776368 (GRCh38)
Gene constraint: LOEUF 0.871 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 93.91

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

Disease context

GABA aminotransaminase deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Gamma-aminobutyric acid transaminase deficiency (Orphanet):

Inheritance: Autosomal recessive
Onset: Infancy, Neonatal

Similar variants

ABAT p.Leu383Gln Uncertain significance ★ ⚠ same residue
ABAT c.168+1G>A Pathogenic ★★ same condition
ABAT p.Arg92Gln Pathogenic/Likely pathogenic ★★ ⚠ same condition
ABAT p.Gln8Ter Pathogenic/Likely pathogenic ★★ same condition
ABAT p.Leu211Phe Pathogenic/Likely pathogenic ★★ same condition
ABAT p.Tyr376Ter Pathogenic/Likely pathogenic ★★ same condition
ABAT c.1381+6G>T Uncertain significance ★★ same condition
ABAT p.Ala162Thr Uncertain significance ★★ ⚠ 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/abat-p-leu383 (accessed [today's date]).

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