PRR19

proline rich 19

Basic information

Region (hg38): 19:42302098-42310814

Links

ENSG00000188368 ∙ NCBI:284338 ∙ ∙ HGNC:33728 ∙ Uniprot:A6NJB7 ∙ 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 PRR19 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRR19 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			35	2		37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	37	2	0

Variants in PRR19

This is a list of pathogenic ClinVar variants found in the PRR19 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-42302255-C-T		not specified	Uncertain significance (Sep 11, 2024)
19-42302280-C-G		not specified	Uncertain significance (Nov 27, 2023)
19-42309609-C-A		not specified	Uncertain significance (Jul 31, 2024)
19-42309611-G-C		not specified	Uncertain significance (Apr 18, 2024)
19-42309646-G-A		not specified	Uncertain significance (Mar 29, 2023)
19-42309649-G-C		not specified	Uncertain significance (Oct 26, 2021)
19-42309664-G-A		not specified	Uncertain significance (May 14, 2024)
19-42309694-G-A		not specified	Uncertain significance (Dec 28, 2024)
19-42309696-C-T		not specified	Uncertain significance (Aug 13, 2021)
19-42309825-G-C		not specified	Uncertain significance (Oct 02, 2023)
19-42309904-C-T		not specified	Uncertain significance (Dec 26, 2023)
19-42309918-A-T		not specified	Uncertain significance (Jan 30, 2024)
19-42309940-G-A		not specified	Likely benign (Dec 15, 2022)
19-42310048-T-C		not specified	Uncertain significance (May 11, 2022)
19-42310068-C-T		not specified	Uncertain significance (Aug 08, 2023)
19-42310072-G-A		not specified	Uncertain significance (Dec 27, 2023)
19-42310079-C-A		not specified	Uncertain significance (Jan 05, 2022)
19-42310099-A-G		not specified	Uncertain significance (Sep 16, 2021)
19-42310128-C-G		not specified	Uncertain significance (Apr 20, 2023)
19-42310161-C-T		not specified	Uncertain significance (Nov 29, 2023)
19-42310276-A-C		not specified	Uncertain significance (Jul 16, 2024)
19-42310393-C-G		not specified	Uncertain significance (May 31, 2023)
19-42310397-A-G		not specified	Uncertain significance (Jun 05, 2024)
19-42310408-A-G		not specified	Uncertain significance (Jun 10, 2024)
19-42310415-C-A		not specified	Uncertain significance (Mar 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRR19	protein_coding	protein_coding	ENST00000499536	2	8724

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.812	0.187	125729	0	16	125745	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.301	206	219	0.943	0.0000134	2255
Missense in Polyphen		63	69.691	0.904		746
Synonymous	-0.0914	90	88.9	1.01	0.00000506	820
Loss of Function	2.62	1	9.89	0.101	5.13e-7	101

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000148	0.000148
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000544
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.0000708	0.0000703
Middle Eastern	0.0000545	0.0000544
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.141
• rvis_EVS: 0
• rvis_percentile_EVS: 53.73

Haploinsufficiency Scores

• pHI: 0.137
• hipred: N
• hipred_score: 0.172
• ghis: 0.490

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0598

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Prr19

Gene ontology

• Molecular function: protein binding