SERINC4

Chr 15

serine incorporator 4

NCBI Gene: 619189 ENSG00000184716 UniProt: A6NH21 OMIM: 614550

Predicted to be involved in phospholipid biosynthetic process. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Predicted to be involved in phospholipid biosynthetic process. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.43

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.43LOEUF

pLI 0.000

Z-score -0.16

OE 1.03 (0.76–1.43)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.44Z-score

OE missense 1.07 (0.98–1.18)

302 obs / 281.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.03 (0.76–1.43)

0≤0.351.4

Missense OE?1.07 (0.98–1.18)

0≤0.61.4

Synonymous OE?0.98

0≤1.21.6

LoF obs/exp: 26 / 25.2Missense obs/exp: 302 / 281.0Syn Z: 0.16

Background carrier burden — how many people carry a rare variant somewhere in SERINC4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 67

842 rare PASS variants

Rare truncating (LoF)

1 in 470

180 rare PASS variants

Rare synonymous (reference)

1 in 300

209 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SERINC4. 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 95	1 in 270
South Asian	~43k	1 in 58	1 in 780
Remaining (unassigned)	~30k	1 in 58	1 in 380
European (Finnish)	~27k	1 in 260	1 in 2,500
Admixed American	~22k	1 in 53	1 in 340
African / African American	~21k	1 in 58	1 in 540
East Asian	~20k	1 in 60	1 in 220
Ashkenazi Jewish	~13k	1 in 220	≈ 1 in 4,400
Middle Eastern	~2,884	1 in 63	1 in 410

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 12 coding exons well covered in gnomAD exomes and genomes.? see exons ↓