PLSCR5

Chr 3

phospholipid scramblase family member 5

NCBI Gene: 389158 ENSG00000231213 UniProt: A0PG75

Predicted to enable phospholipid scramblase activity. Predicted to be involved in plasma membrane phospholipid scrambling. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.67

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.67LOEUF

pLI 0.000

Z-score -0.28

OE 1.08 (0.71–1.67)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.17Z-score

OE missense 1.29 (1.14–1.47)

166 obs / 128.7 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.08 (0.71–1.67)

0≤0.351.4

Missense OE?1.29 (1.14–1.47)

0≤0.61.4

Synonymous OE?1.43

0≤1.21.6

LoF obs/exp: 14 / 12.9Missense obs/exp: 166 / 128.7Syn Z: -2.29

Background carrier burden — how many people carry a rare variant somewhere in PLSCR5?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 190

399 rare PASS variants

Rare truncating (LoF)

1 in 500

81 rare PASS variants

Rare synonymous (reference)

1 in 460

151 rare PASS variants

Rare missense and truncating variants are carried at similar rates in PLSCR5; this gene does not show strong loss-of-function constraint by this measure. 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 280	1 in 1,200
South Asian	~43k	1 in 130	1 in 3,200
Remaining (unassigned)	~30k	1 in 140	1 in 1,200
European (Finnish)	~27k	1 in 1,900	1 in 1,800
Admixed American	~22k	1 in 140	1 in 630
African / African American	~21k	1 in 120	1 in 460
East Asian	~20k	1 in 220	1 in 320
Ashkenazi Jewish	~13k	1 in 1,100	1 in 1,400
Middle Eastern	~2,884	1 in 150	1 in 340

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

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