CFAP91

Chr 3AR

cilia and flagella associated protein 91

Also known as: AAT1, AAT1alpha, C3orf15, CaM-IP2, MAATS1, SPATA26, SPGF51

NCBI Gene: 89876 ENSG00000183833 UniProt: Q7Z4T9 OMIM: 609910

Involved in axonemal central apparatus assembly and spermatogenesis. Predicted to be located in motile cilium and radial spoke stalk. Implicated in spermatogenic failure 51. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spermatogenic failure 51MIM #619177

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Spermatogenic failure 51; no ClinGen or GenCC tier

Active trials

—

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.89

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.89LOEUF

pLI 0.000

Z-score 2.14

OE 0.64 (0.47–0.89)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.09Z-score

OE missense 0.99 (0.91–1.07)

424 obs / 429.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.64 (0.47–0.89)

0≤0.351.4

Missense OE?0.99 (0.91–1.07)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 27 / 42.0Missense obs/exp: 424 / 429.2Syn Z: 0.29

Background carrier burden — how many people carry a rare variant somewhere in CFAP91?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 45

1,040 rare PASS variants

Rare truncating (LoF)

1 in 590

176 rare PASS variants

Rare synonymous (reference)

1 in 130

374 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CFAP91. 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 61	1 in 600
South Asian	~43k	1 in 41	1 in 960
Remaining (unassigned)	~30k	1 in 34	1 in 650
European (Finnish)	~27k	1 in 190	1 in 1,700
Admixed American	~22k	1 in 48	1 in 380
African / African American	~21k	1 in 54	1 in 620
East Asian	~20k	1 in 43	1 in 510
Ashkenazi Jewish	~13k	1 in 370	1 in 570
Middle Eastern	~2,884	1 in 40	≈ 1 in 720

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): 14 of 17 coding exons well covered in gnomAD exomes; exons 3, 4, 11 marginal. Genomes: 16 of 17 (exon 2 below).? see exons ↓