CFAP92

Chr 3

cilia and flagella associated protein 92 (putative)

Also known as: FAP92, KIAA1257

NCBI Gene: 57501 ENSG00000114656 UniProt: Q9ULG3

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.34

LOEUF

GOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.34LOEUF

pLI 0.000

Z-score 0.50

OE 0.87 (0.58–1.34)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.56Z-score

OE missense 0.90 (0.80–1.01)

203 obs / 226.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.87 (0.58–1.34)

0≤0.351.4

Missense OE?0.90 (0.80–1.01)

0≤0.61.4

Synonymous OE?0.93

0≤1.21.6

LoF obs/exp: 15 / 17.2Missense obs/exp: 203 / 226.6Syn Z: 0.53

Background carrier burden — how many people carry a rare variant somewhere in CFAP92?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 40

1,401 rare PASS variants

Rare truncating (LoF)

1 in 270

261 rare PASS variants

Rare synonymous (reference)

1 in 75

528 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CFAP92. 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 49	1 in 340
South Asian	~43k	1 in 28	1 in 180
Remaining (unassigned)	~30k	1 in 29	1 in 250
European (Finnish)	~27k	1 in 97	1 in 2,200
Admixed American	~22k	1 in 33	1 in 340
African / African American	~21k	1 in 29	1 in 210
East Asian	~20k	1 in 40	1 in 230
Ashkenazi Jewish	~13k	1 in 170	1 in 880
Middle Eastern	~2,884	1 in 39	1 in 140

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): 12 of 15 coding exons well covered in gnomAD exomes; exon 9 poorly covered; exons 13, 16 marginal. Genomes: all 15.? see exons ↓