GOT1L1

Chr 8

glutamic-oxaloacetic transaminase 1 like 1

NCBI Gene: 137362 ENSG00000169154 UniProt: Q8NHS2

Predicted to enable L-aspartate:2-oxoglutarate transaminase activity. Predicted to be involved in L-aspartate biosynthetic process. Predicted to be located in cytoplasm. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.28

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.28LOEUF

pLI 0.000

Z-score 0.64

OE 0.84 (0.57–1.28)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.04Z-score

OE missense 1.01 (0.90–1.13)

221 obs / 219.3 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.84 (0.57–1.28)

0≤0.351.4

Missense OE?1.01 (0.90–1.13)

0≤0.61.4

Synonymous OE?0.95

0≤1.21.6

LoF obs/exp: 16 / 19.0Missense obs/exp: 221 / 219.3Syn Z: 0.34

Background carrier burden — how many people carry a rare variant somewhere in GOT1L1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 72

602 rare PASS variants

Rare truncating (LoF)

1 in 170

117 rare PASS variants

Rare synonymous (reference)

1 in 87

226 rare PASS variants

Rare missense and truncating variants are carried at similar rates in GOT1L1; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 100	1 in 320
South Asian	~43k	1 in 71	1 in 260
Remaining (unassigned)	~30k	1 in 53	1 in 220
European (Finnish)	~27k	1 in 390	1 in 1,800
Admixed American	~22k	1 in 82	1 in 230
African / African American	~21k	1 in 66	1 in 320
East Asian	~20k	1 in 61	1 in 460
Ashkenazi Jewish	~13k	1 in 750	1 in 530
Middle Eastern	~2,884	1 in 87	1 in 530

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 9 coding exons well covered in gnomAD exomes and genomes.? see exons ↓