PRSS50

serine protease 50, the group of Serine proteases

Basic information

Region (hg38): 3:46712117-46717869

Links

ENSG00000283706 ∙ NCBI:29122 ∙ OMIM:607950 ∙ HGNC:17910 ∙ Uniprot:Q9UI38 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PRSS50 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS50 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			38	3	2	43
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1			1
non coding						0
Total	0	0	38	3	2

Variants in PRSS50

This is a list of pathogenic ClinVar variants found in the PRSS50 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-46712280-A-T		not specified	Uncertain significance (Jul 12, 2022)
3-46712283-G-A		not specified	Uncertain significance (Jan 09, 2024)
3-46712296-T-C		not specified	Likely benign (Feb 21, 2025)
3-46712326-G-T		not specified	Uncertain significance (Apr 20, 2024)
3-46712329-C-T		not specified	Uncertain significance (Dec 11, 2024)
3-46712392-C-T		not specified	Uncertain significance (Feb 24, 2025)
3-46712412-C-T		not specified	Uncertain significance (Jan 26, 2025)
3-46712442-G-A		not specified	Uncertain significance (Jan 08, 2024)
3-46712932-G-A		not specified	Uncertain significance (Apr 28, 2023)
3-46712939-T-C		not specified	Uncertain significance (Jul 09, 2021)
3-46712960-G-C		not specified	Uncertain significance (Aug 27, 2024)
3-46713015-G-C		not specified	Uncertain significance (Dec 02, 2022)
3-46713036-C-G		not specified	Uncertain significance (Mar 18, 2024)
3-46713049-C-T		not specified	Uncertain significance (Aug 30, 2022)
3-46714213-C-G			Uncertain significance (Jun 01, 2024)
3-46714256-C-T		not specified	Uncertain significance (Apr 28, 2023)
3-46714257-G-A			Benign (Mar 02, 2018)
3-46714265-T-G		not specified	Uncertain significance (Aug 14, 2024)
3-46714281-C-T		not specified	Uncertain significance (Dec 15, 2022)
3-46714283-G-A		not specified	Uncertain significance (Dec 06, 2021)
3-46714284-T-C		not specified	Uncertain significance (May 05, 2023)
3-46714305-G-A		not specified	Likely benign (Jul 28, 2021)
3-46714350-C-T		not specified	Uncertain significance (Jun 01, 2023)
3-46714361-G-A		not specified	Uncertain significance (Nov 11, 2024)
3-46714395-G-A		not specified	Uncertain significance (Feb 16, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP