WDR93

Chr 15

WD repeat domain 93

Also known as: C1d-87, CFAP297, FAP297

NCBI Gene: 56964 ENSG00000140527 UniProt: Q6P2C0

The protein is predicted to be involved in electron transport as part of respiratory chain complex I in mitochondria. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and seizures. The gene shows minimal constraint against loss-of-function variants, consistent with recessive inheritance patterns.

ResearchSummary from RefSeq

Predicted to be involved in electron transport chain. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.07

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.07LOEUF

pLI 0.000

Z-score 1.22

OE 0.79 (0.59–1.07)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.21Z-score

OE missense 0.97 (0.89–1.06)

360 obs / 371.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.79 (0.59–1.07)

0≤0.351.4

Missense OE?0.97 (0.89–1.06)

0≤0.61.4

Synonymous OE?0.91

0≤1.21.6

LoF obs/exp: 30 / 38.1Missense obs/exp: 360 / 371.5Syn Z: 0.82

Background carrier burden — how many people carry a rare variant somewhere in WDR93?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 62

815 rare PASS variants

Rare truncating (LoF)

1 in 490

139 rare PASS variants

Rare synonymous (reference)

1 in 140

303 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for WDR93. 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 110	1 in 500
South Asian	~43k	1 in 57	1 in 360
Remaining (unassigned)	~30k	1 in 64	1 in 400
European (Finnish)	~27k	1 in 340	1 in 5,300
Admixed American	~22k	1 in 54	1 in 510
African / African American	~21k	1 in 90	1 in 570
East Asian	~20k	1 in 75	1 in 1,000
Ashkenazi Jewish	~13k	1 in 410	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 64	≈ 1 in 1,400

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 16 coding exons well covered in gnomAD exomes; exons 4, 7 marginal. Genomes: all 16.? see exons ↓