OR5AP2

Chr 11

olfactory receptor family 5 subfamily AP member 2

ENSG00000172464 UniProt: Q8NGF4

Odorant receptor

Research

Odorant receptor

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.57

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.57LOEUF

pLI 0.004

Z-score 0.62

OE 0.72 (0.35–1.57)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.05Z-score

OE missense 1.01 (0.89–1.15)

169 obs / 167.3 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.72 (0.35–1.57)

0≤0.351.4

Missense OE?1.01 (0.89–1.15)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 4 / 5.6Missense obs/exp: 169 / 167.3Syn Z: -0.12

Background carrier burden — how many people carry a rare variant somewhere in OR5AP2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 150

438 rare PASS variants

Rare truncating (LoF)

1 in 1,100

64 rare PASS variants

Rare synonymous (reference)

1 in 430

151 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for OR5AP2. 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 280	1 in 1,100
South Asian	~43k	1 in 180	1 in 460
Remaining (unassigned)	~30k	1 in 110	1 in 490
European (Finnish)	~27k	1 in 490	none seen
Admixed American	~22k	1 in 100	1 in 1,700
African / African American	~21k	1 in 100	1 in 2,800
East Asian	~20k	1 in 180	1 in 1,500
Ashkenazi Jewish	~13k	1 in 690	none seen
Middle Eastern	~2,884	1 in 120	≈ 1 in 580

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓