PRSS55

serine protease 55, the group of Serine proteases

Basic information

Region (hg38): 8:10525532-10554166

Links

ENSG00000184647NCBI:203074OMIM:615144HGNC:30824Uniprot:Q6UWB4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PRSS55 gene.

  • not_specified (85 variants)
  • not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS55 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000198464.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
clinvar
2
missense
75
clinvar
9
clinvar
84
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 75 10 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
PRSS55protein_codingprotein_codingENST00000328655 528621
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.17e-110.01241256700771257470.000306
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-3.403382021.670.00001102274
Missense in Polyphen10662.7351.6897760
Synonymous-3.3012686.91.450.00000560706
Loss of Function-1.041410.41.354.43e-7125

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008220.000822
Ashkenazi Jewish0.0002990.000298
East Asian0.0005980.000598
Finnish0.00004620.0000462
European (Non-Finnish)0.0002930.000290
Middle Eastern0.0005980.000598
South Asian0.0003940.000392
Other0.0001640.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Probable serine protease. {ECO:0000250}.;

Intolerance Scores

loftool
rvis_EVS
0.98
rvis_percentile_EVS
90.43

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.123
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Prss55
Phenotype

Gene ontology

Biological process
proteolysis
Cellular component
cytosol;integral component of membrane
Molecular function
serine-type endopeptidase activity