PRR23A

proline rich 23A

Basic information

Region (hg38): 3:139003961-139006268

Links

ENSG00000206260 ∙ NCBI:729627 ∙ ∙ HGNC:37172 ∙ Uniprot:A6NEV1 ∙ 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 PRR23A gene.

• Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRR23A 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			8	1		9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	1	0

Variants in PRR23A

This is a list of pathogenic ClinVar variants found in the PRR23A region.

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

Position	Type	Phenotype	Significance	ClinVar
3-139005706-C-A		not specified	Uncertain significance (Sep 15, 2022)
3-139005742-G-C		not specified	Uncertain significance (Nov 02, 2023)
3-139005799-T-A		not specified	Uncertain significance (Dec 30, 2023)
3-139005818-C-A		not specified	Uncertain significance (Dec 23, 2022)
3-139005884-C-G		not specified	Uncertain significance (Jan 27, 2022)
3-139005923-C-T		not specified	Uncertain significance (Oct 17, 2023)
3-139005991-T-C		not specified	Likely benign (Jun 02, 2023)
3-139006036-A-C		not specified	Uncertain significance (Jun 02, 2023)
3-139006054-G-A		not specified	Uncertain significance (Aug 10, 2021)
3-139006072-C-T		not specified	Uncertain significance (Oct 17, 2023)
3-139006094-A-T		not specified	Uncertain significance (Dec 19, 2023)
3-139006133-C-T		not specified	Uncertain significance (Aug 17, 2022)
3-139006180-C-T		not specified	Uncertain significance (Mar 07, 2024)
3-139006187-G-C		not specified	Uncertain significance (Oct 25, 2022)
3-139006215-C-G		not specified	Uncertain significance (Feb 26, 2024)
3-139006261-C-G		not specified	Uncertain significance (Mar 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRR23A	protein_coding	protein_coding	ENST00000383163	1	2307

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	0.634	149	172	0.864	0.0000121	1637
Missense in Polyphen		48	53.942	0.88984		573
Synonymous	1.60	71	90.4	0.786	0.00000788	608
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

• rvis_EVS: 0.52
• rvis_percentile_EVS: 80.46

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.187

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