PRR23C

proline rich 23C

Basic information

Region (hg38): 3:139042102-139044892

Links

ENSG00000233701 ∙ NCBI:389152 ∙ ∙ HGNC:37173 ∙ Uniprot:Q6ZRP0 ∙ 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 PRR23C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRR23C 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			29	4		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	4	0

Variants in PRR23C

This is a list of pathogenic ClinVar variants found in the PRR23C region.

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

Position	Type	Phenotype	Significance	ClinVar
3-139043845-A-C		not specified	Uncertain significance (May 05, 2023)
3-139043851-C-T		not specified	Uncertain significance (Feb 13, 2024)
3-139043882-G-A		not specified	Uncertain significance (Dec 11, 2024)
3-139043950-G-C		not specified	Uncertain significance (Jul 14, 2024)
3-139043951-G-C		not specified	Uncertain significance (Jul 26, 2024)
3-139043962-T-C		not specified	Uncertain significance (Nov 13, 2023)
3-139044028-C-T		not specified	Uncertain significance (Oct 25, 2023)
3-139044061-C-A		not specified	Uncertain significance (Nov 13, 2023)
3-139044065-A-G		not specified	Uncertain significance (Feb 16, 2023)
3-139044077-C-A		not specified	Uncertain significance (Nov 13, 2023)
3-139044085-T-C		not specified	Uncertain significance (Jan 23, 2024)
3-139044086-A-G		not specified	Uncertain significance (Nov 06, 2023)
3-139044117-C-T		not specified	Uncertain significance (Feb 13, 2025)
3-139044140-A-G		not specified	Likely benign (Aug 27, 2024)
3-139044145-G-A		not specified	Uncertain significance (May 15, 2023)
3-139044154-T-C		not specified	Uncertain significance (Aug 07, 2024)
3-139044251-C-T		not specified	Uncertain significance (May 30, 2024)
3-139044268-C-G		not specified	Likely benign (Oct 10, 2023)
3-139044272-C-T		not specified	Uncertain significance (Dec 13, 2023)
3-139044274-C-T		not specified	Uncertain significance (Sep 27, 2024)
3-139044314-C-T		not specified	Uncertain significance (Jan 08, 2024)
3-139044326-C-T		not specified	Uncertain significance (Jun 10, 2024)
3-139044349-G-A		not specified	Uncertain significance (Mar 06, 2023)
3-139044399-C-G		not specified	Likely benign (Sep 21, 2023)
3-139044401-C-T		not specified	Uncertain significance (Oct 18, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRR23C	protein_coding	protein_coding	ENST00000413199	1	2791

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	0.553	148	168	0.880	0.0000118	1604
Missense in Polyphen		40	49.447	0.80894		558
Synonymous	0.747	74	82.6	0.895	0.00000685	584
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: 0.66
• rvis_percentile_EVS: 84.27

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.172

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: 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