PAFAH1B2

Chr 11

platelet activating factor acetylhydrolase 1b catalytic subunit 2

Also known as: HEL-S-303

NCBI Gene: 5049 ENSG00000168092 UniProt: P68402

Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in PAFAH1B2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 190

384 rare PASS variants

Rare truncating (LoF)

1 in 770

67 rare PASS variants

Rare synonymous (reference)

1 in 260

168 rare PASS variants

Rare missense and truncating variants are carried at similar rates in PAFAH1B2; 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 230	1 in 980
South Asian	~43k	1 in 110	1 in 1,600
Remaining (unassigned)	~30k	1 in 220	1 in 570
European (Finnish)	~27k	1 in 550	none seen
Admixed American	~22k	1 in 130	1 in 490
African / African American	~21k	1 in 160	1 in 900
East Asian	~20k	1 in 300	1 in 880
Ashkenazi Jewish	~13k	1 in 330	≈ 1 in 4,200
Middle Eastern	~2,884	1 in 150	none seen

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.