CALML4

Chr 15

calmodulin like 4

Also known as: NY-BR-20

NCBI Gene: 91860 ENSG00000129007 UniProt: Q96GE6 OMIM: 620520

Enables myosin head/neck binding activity. Involved in brush border assembly. Located in microvillus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Enables myosin head/neck binding activity. Involved in brush border assembly. Located in microvillus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.55

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.55LOEUF

pLI 0.000

Z-score 0.43

OE 0.84 (0.47–1.55)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.70Z-score

OE missense 1.18 (1.03–1.36)

141 obs / 119.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.84 (0.47–1.55)

0≤0.351.4

Missense OE?1.18 (1.03–1.36)

0≤0.61.4

Synonymous OE?0.89

0≤1.21.6

LoF obs/exp: 7 / 8.4Missense obs/exp: 141 / 119.4Syn Z: 0.58

Background carrier burden — how many people carry a rare variant somewhere in CALML4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 240

218 rare PASS variants

Rare truncating (LoF)

1 in 1,900

61 rare PASS variants

Rare synonymous (reference)

1 in 760

96 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CALML4. 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 270	1 in 2,100
South Asian	~43k	1 in 320	1 in 1,400
Remaining (unassigned)	~30k	1 in 220	1 in 3,000
European (Finnish)	~27k	1 in 410	1 in 1,300
Admixed American	~22k	1 in 280	1 in 560
African / African American	~21k	1 in 260	1 in 810
East Asian	~20k	1 in 240	1 in 640
Ashkenazi Jewish	~13k	≈ 1 in 6,500	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 170	≈ 1 in 960

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): All 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓