PROSER3

protein-coding

proline and serine rich 3

Gene summary

Located in centrosome. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C19orf55

MANE transcript

NM_001367856.1

Inheritance

—

ClinVar variants

U:64B:13

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.78

Max pathogenic AF

—

Genomic locus

chr19:35,758,143-35,771,166

External References & Databases

Ensembl (ENSG00000167595)

Transcript & Mutation Effects

hg38 • Region Span ~13.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PROSER3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 69

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001367856.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	2 clinvar		3
missense			59 clinvar	11 clinvar		70
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	64	13	0	77

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 52 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001367856.1	RefSeq	NP_001354785.1	11	MANE Select
ENST00000646935.2	Ensembl	ENSP00000496769.2	11	MANE Select
NM_001039887.3	RefSeq	NP_001034976.2	11	Standard
NM_001395450.1	RefSeq	NP_001382379.1	11	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000544099
Coding exons: 10
Length: 12887
Individuals with no LoFs: 124666
Homozygous LoFs: 0
Heterozygous LoFs: 35
Defined: 124701
p: 0.000140

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.279	228	240	0.949	0.0000134	2629
Missense (PolyPhen)		59	66.997	0.88063		810
Synonymous	1.23	83	98.6	0.842	0.00000549	935
Loss of Function	0.970	17	21.9	0.776	0.00000119	219

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000064	0.000064	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00018	0.00017	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00015	0.00015	rare
South Asian	0.00033	0.00033	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (gene trap): N