CWF19L2

Chr 11

CWF19 like cell cycle control factor 2

Also known as: C19L2

NCBI Gene: 143884 ENSG00000152404 UniProt: Q2TBE0

Predicted to be involved in mRNA splicing, via spliceosome. Predicted to act upstream of or within spermatogenesis and spliceosomal complex assembly. Predicted to be located in nucleoplasm. Predicted to be part of post-mRNA release spliceosomal complex. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.84

LOEUF

Mechanism· predicted

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?

0.84LOEUF

pLI 0.000

Z-score 2.39

OE 0.60 (0.44–0.84)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-0.38Z-score

OE missense 1.05 (0.97–1.14)

439 obs / 417.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.60 (0.44–0.84)

0≤0.351.4

Missense OE?1.05 (0.97–1.14)

0≤0.61.4

Synonymous OE?0.95

0≤1.21.6

LoF obs/exp: 25 / 41.6Missense obs/exp: 439 / 417.4Syn Z: 0.44

Background carrier burden — how many people carry a rare variant somewhere in CWF19L2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 40

1,192 rare PASS variants

Rare truncating (LoF)

1 in 440

235 rare PASS variants

Rare synonymous (reference)

1 in 96

373 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CWF19L2. 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 87	1 in 570
South Asian	~43k	1 in 49	1 in 320
Remaining (unassigned)	~30k	1 in 43	1 in 590
European (Finnish)	~27k	1 in 210	1 in 600
Admixed American	~22k	1 in 53	1 in 250
African / African American	~21k	1 in 42	1 in 430
East Asian	~20k	1 in 52	1 in 440
Ashkenazi Jewish	~13k	1 in 320	1 in 560
Middle Eastern	~2,884	1 in 38	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.

Exome coverage (gnomAD): 6 of 18 coding exons well covered in gnomAD exomes; exons 2, 3, 4, 5, 6 and 7 more marginal. Genomes: all 18.? see exons ↓