ANGPTL5

Chr 11

angiopoietin like 5

NCBI Gene: 253935 ENSG00000187151 UniProt: Q86XS5 OMIM: 607666

Predicted to be located in extracellular region. Predicted to be active in extracellular matrix and obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

Predicted to be located in extracellular region. Predicted to be active in extracellular matrix and obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.30

LOEUF

GOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.30LOEUF

pLI 0.000

Z-score 0.59

OE 0.85 (0.58–1.30)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.47Z-score

OE missense 1.09 (0.98–1.22)

219 obs / 200.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.85 (0.58–1.30)

0≤0.351.4

Missense OE?1.09 (0.98–1.22)

0≤0.61.4

Synonymous OE?1.04

0≤1.21.6

LoF obs/exp: 16 / 18.7Missense obs/exp: 219 / 200.2Syn Z: -0.25

Background carrier burden — how many people carry a rare variant somewhere in ANGPTL5?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

495 rare PASS variants

Rare truncating (LoF)

1 in 390

93 rare PASS variants

Rare synonymous (reference)

1 in 210

156 rare PASS variants

Rare missense and truncating variants are carried at similar rates in ANGPTL5; 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 150	1 in 1,400
South Asian	~43k	1 in 89	1 in 490
Remaining (unassigned)	~30k	1 in 80	1 in 750
European (Finnish)	~27k	1 in 410	1 in 1,600
Admixed American	~22k	1 in 110	1 in 1,000
African / African American	~21k	1 in 140	1 in 840
East Asian	~20k	1 in 97	1 in 750
Ashkenazi Jewish	~13k	1 in 1,300	1 in 930
Middle Eastern	~2,884	1 in 130	1 in 290

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): 7 of 8 coding exons well covered in gnomAD exomes; exon 3 marginal. Genomes: all 8.? see exons ↓