PRR3

proline rich 3, the group of Zinc fingers CCCH-type

Basic information

Region (hg38): 6:30557279-30563723

Links

ENSG00000204576 ∙ NCBI:80742 ∙ ∙ HGNC:21149 ∙ Uniprot:P79522 ∙ 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 PRR3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRR3 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			15	2		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	2	0

Variants in PRR3

This is a list of pathogenic ClinVar variants found in the PRR3 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-30557379-C-T		not specified	Uncertain significance (Feb 05, 2024)
6-30557410-G-C		not specified	Likely benign (Jun 29, 2022)
6-30557444-C-A		not specified	Uncertain significance (Jun 02, 2023)
6-30558156-C-T		not specified	Uncertain significance (Apr 28, 2022)
6-30561858-C-T		not specified	Uncertain significance (Jul 05, 2023)
6-30561864-G-T		not specified	Uncertain significance (Feb 08, 2023)
6-30561888-G-T		not specified	Uncertain significance (Jan 31, 2022)
6-30561909-G-T		not specified	Uncertain significance (Dec 23, 2022)
6-30561917-C-T		not specified	Uncertain significance (Mar 02, 2023)
6-30561924-G-A		not specified	Uncertain significance (Oct 12, 2021)
6-30561980-G-A		not specified	Likely benign (Dec 21, 2022)
6-30562037-A-G		not specified	Uncertain significance (May 21, 2024)
6-30562080-T-C		not specified	Uncertain significance (May 05, 2023)
6-30562401-G-A		not specified	Uncertain significance (Sep 01, 2021)
6-30562401-G-T		not specified	Uncertain significance (Jul 09, 2021)
6-30562420-T-G		not specified	Uncertain significance (Feb 21, 2024)
6-30562433-C-G		not specified	Uncertain significance (Mar 01, 2024)
6-30562479-A-G		not specified	Uncertain significance (Dec 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRR3	protein_coding	protein_coding	ENST00000376560	4	6838

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00139	0.878	124810	0	11	124821	0.0000441

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.782	88	111	0.791	0.00000578	1201
Missense in Polyphen		24	37.169	0.6457		447
Synonymous	-0.517	45	40.8	1.10	0.00000210	390
Loss of Function	1.35	6	10.8	0.557	6.86e-7	98

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000206	0.000194
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000556	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000464	0.0000441
Middle Eastern	0.0000556	0.0000556
South Asian	0.0000657	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.485
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.26

Haploinsufficiency Scores

• pHI: 0.241
• hipred: N
• hipred_score: 0.285
• ghis: 0.564

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.297

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prr3

Gene ontology

• Molecular function: RNA binding;protein binding;metal ion binding