PRR32

proline rich 32

Basic information

Region (hg38): X:126819729-126821786

Previous symbols: [ "CXorf64" ]

Links

ENSG00000183631 ∙ NCBI:100130613 ∙ ∙ HGNC:34498 ∙ Uniprot:B1ATL7 ∙ 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 PRR32 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRR32 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			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	0

Variants in PRR32

This is a list of pathogenic ClinVar variants found in the PRR32 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-126820721-T-G		not specified	Uncertain significance (Sep 20, 2024)
X-126820729-G-A		not specified	Uncertain significance (Dec 21, 2023)
X-126820741-C-A		not specified	Uncertain significance (Jan 26, 2023)
X-126820847-T-G		not specified	Uncertain significance (Nov 26, 2024)
X-126820855-C-G		not specified	Uncertain significance (Apr 08, 2024)
X-126820927-C-T		not specified	Uncertain significance (Sep 07, 2022)
X-126820945-T-A		not specified	Uncertain significance (Jan 26, 2023)
X-126821012-C-T		not specified	Uncertain significance (Jul 17, 2023)
X-126821018-A-C		not specified	Uncertain significance (Aug 19, 2024)
X-126821087-G-A		not specified	Uncertain significance (Jun 24, 2022)
X-126821087-G-T		not specified	Uncertain significance (Feb 14, 2024)
X-126821185-C-T		not specified	Uncertain significance (May 24, 2023)
X-126821267-A-G		not specified	Uncertain significance (Jan 04, 2022)
X-126821287-G-C		not specified	Uncertain significance (Sep 10, 2024)
X-126821321-C-G		not specified	Uncertain significance (Sep 01, 2021)
X-126821362-T-G		not specified	Uncertain significance (Mar 07, 2024)
X-126821363-C-G		not specified	Uncertain significance (Apr 09, 2024)
X-126821396-C-T		not specified	Likely benign (Feb 10, 2025)
X-126821527-C-T		not specified	Uncertain significance (Sep 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRR32	protein_coding	protein_coding	ENST00000371125	2	2023

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00458	0.458	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.138	104	108	0.963	0.00000768	1913
Missense in Polyphen		23	25.233	0.91149		466
Synonymous	0.851	36	43.1	0.835	0.00000337	651
Loss of Function	-0.314	3	2.47	1.22	1.56e-7	50

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 1.01
• rvis_percentile_EVS: 90.83

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Prr32