PRR23B

proline rich 23B

Basic information

Region (hg38): 3:139019030-139020926

Links

ENSG00000184814 ∙ NCBI:389151 ∙ ∙ HGNC:33764 ∙ Uniprot:Q6ZRT6 ∙ 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 PRR23B gene.

• Inborn genetic diseases (19 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRR23B 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			16	3		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	3	0

Variants in PRR23B

This is a list of pathogenic ClinVar variants found in the PRR23B region.

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

Position	Type	Phenotype	Significance	ClinVar
3-139019886-C-G		not specified	Uncertain significance (Feb 27, 2024)
3-139019904-C-G		not specified	Uncertain significance (Dec 19, 2022)
3-139019926-C-G		not specified	Uncertain significance (Dec 03, 2021)
3-139019926-C-T		not specified	Uncertain significance (Aug 15, 2023)
3-139019950-A-G		not specified	Likely benign (Mar 25, 2022)
3-139019952-G-A		not specified	Uncertain significance (Feb 21, 2024)
3-139019977-G-T		not specified	Uncertain significance (Dec 14, 2023)
3-139020036-C-G		not specified	Uncertain significance (Oct 20, 2021)
3-139020075-T-C		not specified	Uncertain significance (Mar 14, 2023)
3-139020078-G-C		not specified	Uncertain significance (Mar 14, 2023)
3-139020089-C-A		not specified	Uncertain significance (Jun 07, 2023)
3-139020099-G-C		not specified	Uncertain significance (Sep 13, 2023)
3-139020114-C-A		not specified	Uncertain significance (Feb 11, 2022)
3-139020165-A-G		not specified	Likely benign (Feb 23, 2023)
3-139020182-G-T		not specified	Uncertain significance (Mar 22, 2023)
3-139020247-G-T		not specified	Uncertain significance (May 03, 2023)
3-139020271-C-G		not specified	Likely benign (Oct 21, 2021)
3-139020293-T-G		not specified	Uncertain significance (Feb 02, 2022)
3-139020309-G-A		not specified	Uncertain significance (Aug 08, 2022)
3-139020314-G-T		not specified	Uncertain significance (Nov 22, 2023)
3-139020381-C-T		not specified	Uncertain significance (Sep 17, 2021)
3-139020465-C-A		not specified	Uncertain significance (Oct 16, 2023)
3-139020507-G-A		not specified	Uncertain significance (Aug 02, 2021)
3-139020511-C-T		not specified	Uncertain significance (Nov 14, 2023)
3-139020544-G-A		not specified	Uncertain significance (Jan 18, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRR23B	protein_coding	protein_coding	ENST00000329447	1	1896

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.769	159	189	0.842	0.0000141	1629
Missense in Polyphen		46	52.209	0.88107		536
Synonymous	1.38	76	92.9	0.818	0.00000792	621
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.444
• rvis_EVS: 0.79
• rvis_percentile_EVS: 87.34

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.227

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

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

Mouse Genome Informatics

• Gene name: Prr23a3